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Blood

Interpretations

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Tier 1
CSF3R
Variants
CSF3R T618I
CSF3R any nonsense
CSF3R any frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Chronic Neutrophilic Leukemia
Atypical Chronic Myeloid Leukemia
Interpretation

The activating missense membrane-proximal mutation in CSF3R (p.T618I) has been reported to occur in approximately 83% of cases of chronic neutrophilic leukemia; some reports indicate this mutation may be present in cases of atypical chronic myeloid leukemia as well. The CS3R T618I mutation has been associated with response to JAK2 inhibitors but not dasatinib. A germline activating CSF3R mutation (p. T617N) has been described in autosomal dominant hereditary neutrophilia associated with splenomegaly and increased circulating CD34-positive myeloid progenitors. Nonsense and/or frameshift somatic mutations truncating the cytoplasmic domain of CSF3R have been described in approximately 40% of patients with severe congenital neutropenia and in the context of mutations in other genes may be associated with progression to acute myeloid leukemia. These activating truncating mutations have also been found in patients with chronic neutrophilic leukemia or atypical chronic myeloid leukemia. Some of these cytoplasmic truncating mutations have been associated with responses to dasatinib but not JAK2 inhibitors.

Last updated: 2020-07-24 14:50:32 UTC
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Tier 1
MPL
Variants
MPL codon(s) 515 missense
MPL W515L
MPL W515K
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

MPL encodes the thrombopoietin receptor, an important growth and survival factor for megakaryocytes. Somatic activating mutation in MPL (W515L, W515K) has been reported in approximately 1%-10% of cases of JAK2 V617F-negative myelofibrosis, essential thrombocythemia, a subset of cases of acute megakaryoblastic leukemia and has been associated with sensitivity to JAK inhibitors. The W515 mutations are typically not observed in polycythemia vera or other myeloid disorders (chronic myelomonocytic leukemia, myelodysplastic syndrome). A S505N activating mutation has also been described in familial essential thrombocythemia. MPL mutation is included as one of the major diagnostic criteria for primary myelofibrosis and essential thrombocythemia in the 2016 revision of the WHO classification.

Last updated: 2018-11-12 20:40:42 UTC
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Tier 2
JAK1
Variants
JAK1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

Activating mutations in JAK1 (SH2-, pseudokinase -and kinase- domains) have been reported in approximately 5-20% of cases of T-Cell Acute Lymphoblastic Leukemia, in "Ph-like ALL" and in less than 5% of Acute Myeloid Leukemia. Some, but not all, of these mutations have been shown to be inhibitable by ATP-competitive JAK inhibitors or Type I interferon.

Last updated: 2019-08-28 14:54:00 UTC
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Tier 1
NRAS
Variants
NRAS any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
B Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

NRAS encodes a membrane protein GTPase that is a central mediator of downstream growth factor receptor signaling, critical for cell proliferation and survival. Mutations in codons 12, 13, and 61 of NRAS have been reported in 7-22% of acute myeloid leukemia, 12% of chronic myelomonocytic leukemia, 20% of blastic plasmacytoid dendritic cell neoplasm, 16% of juvenile myelomonocytic leukemia, 4-10% of myelodysplastic syndromes, and 5% of primary myelofibrosis. In addition, NRAS mutations have been described in approximately 15% of cases of B-ALL and, interestingly, some cases of ALL may show more than one abnormality in the RAS pathway. NRAS mutations are associated with an unfavorable prognosis in chronic myelomonocytic leukemia and primary myelofibrosis. NRAS mutations are also associated with an unfavorable prognosis in myelodysplastic syndrome, particularly in patients predicted to have lower-risk myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes). NRAS mutations do not seem to have significant prognostic impact in AML.

Last updated: 2019-08-28 14:54:00 UTC
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Tier 1
NOTCH2
Variants
NOTCH2 I2304fs
NOTCH2 exon(s) 34 frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Marginal Zone B Cell Lymphoma
Diffuse Large B Cell Lymphoma
Interpretation

NOTCH2 gain of function mutations have been reported in apprximately 25% of splenic marginal zone lymphomas and are thought to be rare in non-splenic marginal zone lymphomas. These mutations are typically located near the C-terminal PEST domain and lead to protein truncation or, more rarely, are nonsynonymous substitution mutations affected the extracellular heterodimerization domain. NOTCH2 mutations may be associated with a worse prognosis among cases of splenic marginal zone lymphoma. In addition, NOTCH2 PEST domain mutations have been reported in approximately 8% of diffuse large B cell lymphomas and in vitro systems have demonstrated these PEST domain mutant NOTCH2 receptors have increased activity compared to wild type NOTCH2. In addion, copy number gain has been reported in a subset of DLBCL cases with NOTCH2 mutations.

Last updated: 2016-06-04 21:03:16 UTC
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Tier 1
RIT1
Variants
RIT1 M90I
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

Ras-like-without-CAAX-1 (RIT1) gene is a member of the RAS gene family. Recurrent somatic mutations of RIT1 have been reported in approximately 7% of cases of chronic myelomonocytic leukemia, and less than 5% of cases of myelodysplastic syndrome and less than 5% of acute myeloid leukemia. The mutations typically occur in the Switch II effector domain, and the affected residues are close to codon Q79, which is analogous to amino acid Q61 of NRAS or KRAS where mutations frequently occur in cancer. Moreover, the experimental Q79L mutation in RIT1 has been reported to confer constitutive activation of the protein. RIT1 mutations are typically mutually exclusive of mutations in other RAS family members. In addition, RIT1 maps to the minimal common amplified region (1q21-22) in 1q gains frequently found in other cancers. 1q amplification involving the RIT1 locus has been reported in 4-18% of cases of myelofibrosis as well as less than 5% of chronic myelomonocytic leukemia, less than 5% of myelodysplastic syndromes and less than 5% of acute myeloid luekemia. In rare cases mutations and amplifcations of RIT1 may coexist. In general, RIT1 has been reported to increased phosphorylation of AKT and activate proliferation through the mitogen activated protein kinase pathway.

Last updated: 2020-07-24 14:53:26 UTC
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Tier 2
DNMT3A
Variants
DNMT3A any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
T Lymphoblastic Leukemia/Lymphoma
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

DNMT3A is a DNA methyltransferase. Recurrent, somatic, heterozygous mutations in DNMT3A have been reported in approximately 18-25% of cases of acute myeloid leukemia (up to 34% of normal karyotype AML), 12-18% of cases of myelodysplastic syndrome, up to 15% of myeloproliferative neoplasms, less than 5% of cases of chronic myelomonocytic leukemia and 15% of cases of adult, eary T cell precursor acute lymphoblastic leukemia. DNMT3A is also one of the most frequently mutated genes in CHIP and CCUS. Mutations in DNMT3A may occur together with mutations in other genes including JAK2, FLT3, IDH1/IDH2, ASXL1, TET2 and NPM1. DNMT3A mutations have been associated with reduced enzymatic activity or altered histone binding, as well as reduced DNA methylation in various genomic regions and altered gene expression in some models. Codon R882 is a hotspot for mutations in DNMT3A. DNMT3A mutations may be associated with adverse prognosis in specific subtypes of AML according to some, but not all studies; the prognostic significance of DNMT3A in AML may depend on patient age, type of DNMT3A mutation (R882 or non-R882 mutation) and the co-existence (or absence) of specific mutations in other genes. DNMT3A mutations may also be associated with adverse prognosis in MDS according to some studies.

Last updated: 2019-08-28 14:54:00 UTC
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Tier 1
FANCL
Variants
FANCL any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

Fanconi anemia is a rare genetic syndrome characterized by developmental defects, bone marrow failure and increased cancer risk. A diagnosis of Fanconi Anemia usually requires detection of a pathogenic mutation in a Fanconi Anemia gene and/or a positive chromosomal breakage test. A variety of different inactivating mutations in FANCL have been described in a small subset of patients with Fanconi Anemia and patients with myeldodysplastic syndrome(less than 5%). Pathogenic mutations are often found in homozygous or compound heterozygous state. In addition, pathogenic variants in introns have been described that are not detected by this test.

Last updated: 2019-05-23 22:48:15 UTC
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Tier 1
XPO1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Interpretation

The nuclear export protein, XPO1, is mutated in less than 5% of cases of chronic lymphocytic leukemia (CLL). Most frequently these mutations affect codon Glu571. Cases of CLL with mutations in XPO1 tend to be associated with a higher prevalence of CD38 expression (>30% of tumor cells), ZAP70 expression (> 20% of tumor cells), concomitnat NOTCH1 mutation and unmutated IGHV. Given the low prevalence of XPO1 mutations, prognostic signficance has not been firmly establlished. XPO1 has been successfully targeted in some experimental models of CLL.

Last updated: 2016-06-04 21:09:01 UTC
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Tier 1
CXCR4
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Lymphoplasmacytic Lymphoma
Interpretation

CXCR4 is a chemokine receptor which has been shown to mutated in approximately 25-30% of patients with Waldenstrom's Macroglobulinemia(WM). The mutations are nonsense and frameshift mutations in the carboxy terminus of the protein. Similar mutations are found in WHIM (Warts, Hypogammaglobulinemia, Infection and Myelokathexis) syndrome, a rare, autsomal dominant genetic disorder. These mutations in the carboxy terminal tail lead to impaired receptor desensitization and internalization, resulting in enhanced receptor activation and increased expression. Almost all WM patients with mutation of CXCR4 also carry the MYD88 L265P mutation. Mutations in CXCR4 appear to be mutually exclusive of mutations in CD79A/CD79B. Patients with CXCR4 mutations may be candidates for targeted therapy since CXCR4 antagonists have been used in patients with WHIM syndrome. The presence of CXCR4 mutations may affect response to Ibrutinib therapy according to some studies.

Last updated: 2016-02-13 22:39:54 UTC
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Tier 1
SF3B1
Variants
SF3B1 codon(s) 700, 666, 662, 625, 622 missense
SF3B1 exon(s) 13-16 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
MDS with Ring Sideroblasts
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Primary Myelofibrosis
Essential Thrombocythemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SF3B1 encodes a core component of the U2 small nuclear ribonucleoprotein, involved in the recognition of the branchpoint sequence during RNA splicing. SF3B1 is one of several genes involved in RNA splicing that has been identified as recurrently mutated in MDS and other malignancies. SF3B1 is the most commonly mutated gene found in MDS (20-33% of MDS overall). SF3B1 mutations are highly associated with subtypes of MDS characterized by ring sideroblasts (MDS with ring sideroblasts and MDS with multilineage dysplasia and ring sideroblasts), present in ~80% of these patients. In addition, many cases (60-80%) of myelodysplastic/myeloproliferative neoplasm with ring sideroblast and thrombocytosis (MDS/MPN-RS-T) harbor SF3B1 mutations. SF3B1 mutations are also found in 12% of blastic plasmacytoid dendritic cell neoplasm, 4-7% of primary myelofibrosis, 5% of CMML, less than 5% of de novo AML and less than 5% of essential thrombocythemia and polycythemia vera. SF3B1 mutations tend to occur in exons 13-16 and appear to be enriched at codons Lys700, Lys666, His662, Arg625 and Glu622. Missense mutations have been reported in approximately 5-10% of cases of chronic lymphocytic leukemia (CLL) and are reported to be associated with del11q , unmutated IGHV and may predict an adverse prognosis in CLL. Mutations in splicing factor components are usually mutually exclusive. Among cases of CLL, SF3B1 mutations tend to be exclusive of NOTCH1 mutations according to one study. The presence of SF3B1 mutation has been included in the diagnostic criteria for MDS/MPN-RS-T and MDS-RS diagnosis in the 2016 revision of the WHO classification. SF3B1 mutations are independently associated with a more favorable prognosis in MDS (NCCN Guidelines for Myelodysplastic Syndromes) and are highly predictive for the presence of ring sideroblasts. SF3B1 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of therapy-related AML or elderly patients with de novo acute myeloid leukemia with worse clinical outcomes. SF3B1 mutations are associated with an unfavorable prognosis in essential thrombocythemia. SF3B1 has a critical role in MDS by affecting the expression and splicing of genes involved in specific cellular processes/pathways, many of which are relevant to the known MDS-RS pathophysiology, suggesting a causal link.

Last updated: 2018-11-12 20:40:56 UTC
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Tier 1
IDH1
Variants
IDH1 R132H
IDH1 R132L
IDH1 R132C
IDH1 codon(s) 132 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Primary Myelofibrosis
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

IDH1 is an enzyme localized to the cytoplasm and peroxisomes and involved in citrate metabolism. Mutations at Arg132 of IDH1 are typically heterozygous mutations and considered gain of function mutations that lead to increased levels of 2-hydroxyglutarate which are believed to alter epigenetic regulation (ie, DNA methylation) in AML. Mutations of IDH1 appear to be mutually exclusive of mutations in TET2, another gene involved in regulation of DNA methylation, and also exclusive of mutations in IDH2. Mutations of IDH1 have been shown to lead to increased DNA methylation in AML. Recurrent missense mutation of Arg 132 in IDH1 has been reported in approximately 5-15% of cases of acute myeloid leukemia and is often associated with a normal karyotype, wild type CEBPA, wild type FLT3 and the presence of NPM1 mutations. In addition, this mutation has been reported in approximately 10-20% of cases with leukemic transformation of myeloproliferative neoplasms and has been reported in less than 5% of chronic phase primary myelofibrosis, less than 5% of myelodysplastic syndrome and rare cases of polycythemia vera, essential thrombocytosis and chronic myelomonocytic leukemia. The prognostic impact of IDH1 mutations in AML appears uncertain, however, in the settings of primary myelofibrosis and polycythemia vera, the presence of IDH1 mutation is independently associated with inferior survival. Mutant IDH1 represents a therapeutic target in some clinical settings.

Last updated: 2018-11-12 20:41:31 UTC
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Tier 2
IKZF2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

Copy number loss of in IKZF2 (HELIOS) have been described in approximately 50-60% of low haploid acute lymphoblastic leukemia. Occasional inactivating mutations of IKZF2 have also been described. IKZF2 and Ras pathway alterations are usually mutually exclisive according to one report. In some experimental models, higher amounts of pERK and pS6 were observed after knockdown of Ikzf2 in cell lines. This raises the possibility that IKZF2 is a modulator of Ras and PI3K signaling and the efficacy of therapeutic targeting of PI3K and mTOR in such cases remains to be determined.

Last updated: 2016-06-04 21:20:50 UTC
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Tier 1
MYD88
Variants
MYD88 L265P
Primary Sites
Blood
Bone Marrow
Tumor Types
Lymphoplasmacytic Lymphoma
Interpretation

MYD88 is an adaptor protein in the Toll-like receptor and interleukin 1 receptor pathway which mediates activation of NF-KB. The somatic, activating mutation in MYD88 (p.L265P) has been reported in approximately 90% of lymphoplasmacytic lymphoma (Waldenostrom's macroglobuinemia), 20-30% of cases of diffuse large B cell lymphoma (DLBCL), 10-60% of IgM MGUS, 10% of MALT lymphoma and up to 10% of chronic lymphocytic leukemia. It has not been reported in acute leukemia or multiple myeloma (including IgM myeloma). The L265P mutation increases in NFkB activity, JAK-STAT3 (Janus kinase-signal transducer and activator of transcription 3) signalling and interferon-b production. Targetted therapy using inhibitors of the different components of this pathway are at various stages of investigation. Responses to targeted therapy with Ibrutinib may vary according to MYD88 and CXCR4 mutation status according to some studies.

Last updated: 2020-07-24 14:53:37 UTC
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Tier 1
CTNNB1
Variants
CTNNB1 codon(s) 32, 33, 34, 35, 36, 37, 41, 45 any
CTNNB1 S45P
CTNNB1 G34E
CTNNB1 S37C
CTNNB1 S37F
CTNNB1 D32V
CTNNB1 codon(s) 41, 45 any
CTNNB1 S37Y
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Interpretation

Beta catenin is a transcriptional co-regulator and an adapter protein for cellular adhesion; it comprises part of the Wnt signaling pathway and intracellular levels of beta-catenin are regulated by its phosphorylation, ubiquitination and proteosomal degradation. Accumulation of nuclear beta catenin can lead to a tumoral phenotype and oncogenic transformation in a variety of solid tumors. Various oncogenic mutants of beta catenin have been found in different tumor types which alter its degradation, leading to its accumulation and promoting tumor growth. Some of these mutations are located at the N-terminus of the protein at the sites of phosphorylation which normally regulate its degradation. Interestingly, in a recent study, 38% of patients with myelodysplastic syndromes or acute myeloid leukaemia, showed increased β-catenin signalling and nuclear accumulation of beta catenin in osteoblasts was associated with increased Notch signalling in haematopoietic cells consistent with a model where abnormalities of osteolineage cells are associated with myeloid malignancies. In addition, aberrant Wnt siganling has been reported to play a role in chronic myeloid leukemia, acute lymphoblastic leukemia and non-hodgkin lymphomas. Inhibition of beta catenin using small molecule inhibitors is currently being investigated in various tumor types. Recent studies suggest that targeting of the Wnt pathway and beta catenin may be promising targets in the therapy of acute myeloid leukemia.

Last updated: 2016-06-04 21:23:20 UTC
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Tier 1
SETD2
Variants
SETD2 any nonsense
SETD2 any frameshift
SETD2 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
T Lymphoblastic Leukemia/Lymphoma
Interpretation

SETD2 encodes a H3K36 trimethylase and loss of function mutations (missense, nonsense and frameshift mutations) have been reported in approximately 10% of acute myeloid leukemia, and 10% of acute lymphoblastic leukemia, including acute early T cell precursor acute lymphoblastic leukemia. SETD2 mutations appear to be enriched among cases of acute leukemia with rearrangements of MLL. Coexistence of two mutations in SETD2 has been described and together with recurrent loss of function mutations suggest this gene is acts as a tumor suppressor. The presence of loss of function mutations in SETD2 has been associated with global loss of H3K36me3. In addition, the presence of SETD2 mutations may be associated with therapy resistance.

Last updated: 2016-06-04 21:31:38 UTC
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Tier 1
CBLB
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myeloid Leukemia
Acute Myeloid Leukemia
Interpretation

Casitas B lineage lymphoma b (CBL-B) belongs to the single-protein RING family of ubiquitin ligases. CBLB mutations have been reported in accelerated phase and blast phase chronic myelogenous leukemia but not chronic phase of chronic myelogenous leukemia. CBLB mutations have been reported together with TET2 mutations in some cases. CBLB mutations have not been reported in childhood acute lymphoblastic leukemia according to one study.

Last updated: 2016-06-04 21:34:46 UTC
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Tier 1
GATA2
Variants
GATA2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Chronic Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

GATA2 is a member of the GATA transcription factors which play a role in hematopoiesis. GATA2 mutations in the zinc finger domains have been described in accelerated phase and blasts phase chronic myelogenous leukemia as well as 5-10% of acute myeloid leukemia and familial syndromes with a predisposition to acute myeloid leukemia and myelodysplastic syndromes. Co-existing mutations in ASXL1 have been reported in a subset of patients with mutations in GATA2 and are believed to represent an important step in myeloid transformation, particularly to chronic myelomonocytic leukemia in young female patients. Other reports suggest that in cases of AML, GATA2 mutations have a higher prevalence among cases with biallelic CEBPA mutations and were not observed in cases with monoallelic CEBPA mutations. In general, the GATA2 pathogenic mutations are loss-of-function mutations (nonsense, frameshift, splice site mutations or missense mutations(codons 349-398)) and are believed to result in impairment of granulocyte differentiation. In MDS, GATA2 mutations may be associated with a poor prognosis. If clinical findings and family history are concerning for an inherited disorder, then genetic counseling may be helpful, if clinically indicated.

Last updated: 2019-08-28 14:54:00 UTC
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Tier 1
PIK3CA
Variants
PIK3CA E542K
PIK3CA E545K
PIK3CA H1047R
PIK3CA codon(s) 542, 545, 1047 any
PIK3CA exon(s) 10, 20, 21 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Diffuse Large B Cell Lymphoma
Chronic Lymphocytic Leukemia
Interpretation

PIK3CA is the the p110 catalytic subunit-alpha of phosphatidylinositol 3 kinase. Activating mutations of PIK3CA occur in various types. PIK3CA mutations have been reported in approximately 8% of cases of diffuse large B cell lymphoma and are typically mutually exclusive of PTEN loss in that tumor type. PIK3CA mutations are very rare in chronic lymphocytic leukemia and believed to be absent in acute myeloid leukemia and myelodysplastic syndromes. PIK3CA mutations are potentially targetable in some settings and pathway inhibitors are currently under investigation .

Last updated: 2016-06-04 21:43:12 UTC
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Tier 1
WHSC1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

WHSC1 (also known as NSD2 or MMSET) is a H3K36 methyltransferase that converts unmodified H3K36 to the monomethylated and dimethylated forms. NSD2 was recently found to show clonal and subclonal p.E1099K or p.D1125N activating alterations in 15% of t(12;21) ETV6-RUNX1–containing and 15% of TCF3-PBX1 contaning pediatric B-ALLs. The p.E1099K mutation appears to be less prevalent in other types of B-ALL(less than 5%) and both mutations appear to be absent in T-ALL, pediatric AML and adult ALL. In experimental models, increased H3K36 dimethylation and decreased unmodified H3K36 was associated with the NSD2 p.E1099K variant or the t(4;14) translocation( which leads to overexpression of NSD2). Overexpression of NSD2 in t(4;14)-positive multiple myeloma (MM) is also associated with globally increased levels of H3K36 dimethylation and decreased K27 trimethylation. NSD2 is considered to be a potential therapeutic target for a subset of cases of pediatric B-ALL.

Last updated: 2016-06-04 21:46:58 UTC
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Tier 1
PDGFRA
Variants
PDGFRA D842V
PDGFRA H650Q
PDGFRA N659S
PDGFRA R748G
PDGFRA T674I
PDGFRA Y849S
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Interpretation

Rearrangements of PDGFRA (including FIP1L1-PDGFRα) is a common abnormality among patients with chronic eosinophilic leukemia. In addition, activating mutations (eg, p.H650Q, p. N659S, p.R748G, p.Y849S) in PDGFRA have been reported in FIP1L1-PDGFRα-negative chronic eosinophilic leukemia and resistance mutations in PDGFRA (eg. p.D842V, p.T674I) have been reported in the setting of imatinib therapy for patients with FIP1L1-PDGFRα. These PDGFRA mutations have variable responses to the different available tyrosine kinase inhibitors.

Last updated: 2016-06-04 22:00:32 UTC
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Tier 1
KIT
Variants
KIT D816V
KIT exon(s) 11 any
KIT exon(s) 17 any
KIT exon(s) 8 missense
KIT exon(s) 9 missense
KIT exon(s) 10 missense
KIT any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Mast Cell Neoplasm
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

KIT(cKIT) mutations are present in approximately 8-25% of cases of acute myeloid leukemia and have a higher prevalence in the favorable cytogenetic risk group including core binding factor (CBF) AMLs (ie, (t(8;21)(q22;q22)(RUNX1-RUNX1T1), inv(16)(p13q22)(CBFB-MYH11)) or normal karyotype AML. Mutations of KIT in AML are most common in KIT exon 17 (within the activation loop of the tyrosine kinase domain) but may also occur in KIT exons 8 (extracellular portion of the receptor implicated in dimerization), 9-11 (juxtamembrane/transmembrane domains). The presence of KIT mutations has been reported to be associated with a poorer survival and/or higher risk of relapse than expected for patients with the t(8;21)(q22;q22)(RUNX1-RUNX1T1), and to a lesser extent, in inv(16) AML. KIT mutations are also important in systemic mastocytosis and various mast cell disorders; over 90% of cases of systemic mastocytosis carry mutations in exon 17 of KIT (most commonly D816V or rarely D816H, D816Y or other variants). In patients with mastocytosis, the KIT mutations may be detectable in non-mast cell hematopoietic cells. The KIT D816V mutation has been shown to be resistant to imatinib; other KIT mutations may show variable responses to imatinib. The KIT D816V mutant has been reported to be sensitive to other tyrosine kinase inhibitors. In the context of core binding factor AMLs, the KIT mutation status can help direct therapeutic management.

Last updated: 2018-11-12 20:41:34 UTC
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Tier 2
TET2
Variants
TET2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Acute Myeloid Leukemia
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

Ten-Eleven Translocation-2 (TET2) encodes a dioxygenase that converts 5-methyl-cytosine (5-mC) to 5-hydroxymethyl-cytosine (5-hmC) and promotes DNA demethylation. TET2 is a tumor suppressor gene and loss-of-function via mutations, deletion and IDH1/2 (Isocitrate Dehydrogenase 1 and 2) gene mutations is a common event in myeloid and lymphoid malignancies. TET2 is also present in about 10% of otherwise healthy elderly individuals with clonal hematopoiesis of indeterminate potential (CHIP) and in some patients with unexplained cytopenia but who do not satisfy diagnostic criteria for MDS, so-called clonal cytopenia with undetermined significance (CCUS). Mutations in TET2 occur in 50-60% of chronic myelomonocytic leukemias. Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodysplasia and monocytosis, including but not limited to, chronic myelomonocytic leukemia. TET2 mutations are also found in 20-40% of systemic mastocytosis, 36% of blastic plasamcytoid dendritic cell neoplasm, 12-32% of acute myeloid leukemia, 10-20% of primary myelofibrosis, 10-33% of myelodysplastic syndromes, 10% of myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), 22% of polycythemia vera, and 16% of essential thrombocythemia. TET2 mutations are absent in juvenile myelomonocytic leukemia and show a low prevalence (less than 5%) in pediatric AML. Among lymphoid neoplasms, TET2 mutations are reported in approximately 30% of angioimmunoblastic lymphomas and less than 15 % of other mature T cell lymphomas and mature B cell lymphomas. In general, the mutations in TET2 are typically loss of function variants (frameshift, missense, nonsense mutations) that may be monoallelic or biallelic and occur throughout the gene. TET2 mutations tend to be mutually exclusive of mutations in IDH1/IDH2. TET2 mutations are associated with unfavorable outcomes and shorter survival after hematopoietic stem cell transplantation in patients with myelodysplastic syndrome (PMID: 25092778). In acute myeloid leukemia with wild-type FLT3-ITD and normal karyotype or intermediate-risk cytogenetic abnormalities, TET2 mutations are associated with an unfavorable prognosis.

Last updated: 2019-08-28 14:54:00 UTC
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Tier 1
FBXW7
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
B Lymphoblastic Leukemia/Lymphoma
Chronic Lymphocytic Leukemia
Interpretation

FBXW7 is a ubiquitin protein ligase subunit which regulates levels of NOTCH, cyclin E, and other proteins. Loss-of-function mutations of FBXW7 lead to constitutive Notch1 pathway activation via inhibition of ubiquitin-mediated degradation of activated NOTCH1 and MYC. Mutations of FBXW7 include missense and frameshift mutations. FBXW7 have been reported in approximately 4-30% of cases of T-ALL less than 5% of cases of B-ALL, less than 5% of cases of CLL and appear to be very rare/absent in acute myeloid leukemia. According to some, but not all studies, NOTCH1 pathway activation by NOTCH1 mutations or FBXW7 mutations in TALL have been associated with an improved prognosis (in cases without concomitant RAS or PTEN mutations) compared to cases without mutations in NOTCH1 or FBXW7. FBXW7 mutations may occur alone or together with mutations in NOTCH1 (typically those in the heterodimerization domain and more rarely those in the PEST domain of NOTCH1). FBXW7 mutations may result in resistance to gamma secretase inhibitors according to some experimental studies.

Last updated: 2016-06-04 22:13:22 UTC
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Tier 3
TLR2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

Toll-like receptor (TLR) genes encode important components of innate immune system which is believed to play a role in the pathophysiology of myelodysplastic syndromes(MDS). Various TLR isoforms have been shown to be overexpressed in bone marrow CD34+ cells in MDS. In addition, the TLR2 p.F217S has been reported in approximately 10% of MDS patients. This variant is associated with enhanced activation of downstream signaling including NF-κB activity. TLR2 p.F217S may be associated with a higher frequency of chromosome 7 deletion in MDS as well. It is important to note that the TLR2 p.F217S variant has not been clearly established as a somatic variant and it is reported in the ESP database with an overall allele frequency of approximatly 0.3%. The potenital role of therapeutic targeting of TLR2 in MDS remains to be established.

Last updated: 2016-06-04 22:14:48 UTC
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Tier 1
IL7R
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

IL7R (Interleukin 7 receptor alpha) is required for normal lymphocyte development. Loss of function mutations are seen in severe combined immunodeficiency. More recently, heterozygous, somatic, activating mutations have been described in pediatric B-cell and T-cell acute lymphoblastic leukemia. These mutations are most frequently in-frame insertions and deletions in the transmembrane domain. In general, these mutations lead to the addition of a cysteine residue in the juxtamembrane domain, a change that is essential for the resultant constiutive activation of the receptor and JAK/STAT and mTOR pathways. Recently, non-cysteine mutations have been described in the transmembrane domain of IL7R, some of which are activating. IL7R mutations have been described in up to 6% of childhood B-ALL and are typically associated with aberrant CRLF2 expresssion and in up to 10% of childhood T-ALL/adult T-ALL and may co-exist with NOTCH1 mutations. These mutations are rare in adult AML(1%). The prognostic significance of these mutations remains to be elucidated. These mutations may have implications for targetted therapy. In addition to in frame exon 6 in/dels, activating mutations in exon 5 have been described in IL7R which are not detected by this assay.

Last updated: 2016-06-04 22:16:45 UTC
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Tier 2
CSF1R
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

Mutations of CSF1R (M-CSF receptor) at codon 969 were initially reported in approximately 10-20% of cases of myelodsyplasia and acute myeloid leukemia including cases of chronic myelomonocytic leukemia and acute myeloid leukemia with monocytic differentiation. However, other studies have not been able to reproduce those findings. In addition to the Y969 mutation, other mutations in CSF1R as well as translocations involving CSF1R have been described in CSF1R. Interestingly, other mutations in CSF1R have also been reported to be associated with different disease, namely hereditary diffuse leukoenceophalopathy with spheroids.

Last updated: 2016-06-04 22:19:10 UTC
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Tier 1
NPM1
Variants
NPM1 codon(s) 288 frameshift
NPM1 codon(s) 290 frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

Mutations of NPM1 have been reported in approximately 25-35% of cases of acute myeloid leukemia (AML). The mutations of NPM1 are frameshift mutations in the C-terminus of the protein that alter the C-terminal amino acid sequence and are associated with aberrant cytoplasmic localization of the protein. NPM1 mutations in AML are typically associated with a normal karyotype and may co-exist with FLT3 mutations. The presence of NPM1 mutations has been associated with improved complete remission rates, but not necessarily overall survival, in multivariate analysis including assessment of the variety of more recently discovered mutations that may be present in AML. In addition, cytogenetically normal AML with mutated NPM1, without FLT3 ITD or mutated DNMT3A, has been considered to be a favorable genetic risk group according to some studies, although other studies suggest that coexistant mutations in IDH1 or IDH2 may be required for the favorable risk effect of NPM1.

Last updated: 2018-11-12 20:40:30 UTC
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Tier 2
PIM1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

PIM1 is a member of the PIM family of proteins which are proto-oncogenes, serine-threonine kinases with increased expression in a variety of malignancies. PIM1 expression appears to be up-regulated by STAT5, and has been found to be over-expressed in primary AML blast samples. In particular, PIM1 has associated with FLT3 mediated leukemogenesis in FLT3-ITD AML. PIM1 expression was noted to be 25-fold higher than in FLT3-ITD samples, as compared to wild type FLT3 (WT) AML samples. The PIM kinases, therefore, represent potential therapeutic targets in AML, particularly in those cases harboring FLT3-ITD mutations. According to one study, the small molecule inhibitor of PIM1, AR00459339, alone and in combination with a FLT3 inhibitor (AR00454200), resulted in significant cytotoxicity in FLT3-ITD cell lines and patient samples that strikingly parallels the effects of FLT3 inhibition. A variety of mutations have been reported throughout PIM1 in various types of malignancy including hematopoietic tumors, but PIM1 mutations appear to be extremely rare in acute myeloid leukemia and myelodysplasia.

Last updated: 2016-06-04 22:29:01 UTC
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Tier 2
IKZF1
Variants
IKZF1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

IKZF1(Ikaros) is a transcriptional regulator of B cell development and is believed to have tumor suppressor-like properties. Deletions (whole gene and/or partial gene deletions) of IKZF1 have been reported in approximately 15-28% of BCR-ABL1-Negative_B-cell ALL, 70-90% of BCR-ABL1-Positive B-cell ALL. IKZF1 mutations are also found in approximately 40% of "Ph-like" ALL. Loss of functions mutations (missense, nonsense, frameshift mutations) have also been reported in IKZF1 in ALL and appear to be much less common (less than 5% of cases) than deletions. Deletions and mutations in IKZF1 have been associated with adverse prognosis and greater risk of relapse.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
CUX1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Lymphocytic Leukemia
Chronic Myelomonocytic Leukemia
Interpretation

CUX1(CUTL1, CDP) is a transcription factor proposed to act as a haploinsufficient myeloid tumor suppressor that maps to the commonly deleted segment in cases of myeloid malignancies with complete or partial loss of chromosome 7; such cases show reduced expression of CUX1. In addition, loss of function (missense, nonsense, frameshift) mutations of CUX1, occuring throughout the gene, have been described in a variety of cancer types; they occur in up to 10% of chronic myelomonocytic leukemia and are rare (less than 5%) in acute myeloid leukemia, myelodysplastic syndromes, myeloproliferative neoplasms and chronic lymphocytic leukemia. When loss of function mutations do occur in CUX1, they do not coexist with monosomy 7 or del7q, consistent with its role as a haploinsufficient tumor suppressor gene in most cases; nevertheless, compound heterozygous loss of function mutations in CUX1 have been described in rare cases. In MDS and MDS/MPN, both CUX1 inactivation and −7/del(7q) have been associated with poorer overall survival according to some studies. CUX1 deficiency has been reported to activate phosphoinositide 3-kinase (PI3K) signaling through direct transcriptional downregulation of the PI3K inhibitor PIK3IP1 (phosphoinositide-3-kinase interacting protein), leading to increased tumor growth and susceptibility to PI3K-AKT inhibition in some models.

Last updated: 2016-06-04 22:35:54 UTC
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Tier 2
LUC7L2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

LUC7L2 is thought to be an RNA binding protein and component of the RNA splicing machinery. Recent studies suggest that it may be a recurrent mutation in a subset of patients with AML and/or MDS although its prevalence appears to be low (less than 5%). In addition, the significance of LUC7L2 mutations is uncertain although in some reported cases it has been associated with disease progression. Further study is required.

Last updated: 2016-06-04 22:36:55 UTC
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Tier 2
BRAF
Variants
BRAF V600D
BRAF V600E
BRAF V600K
BRAF V600R
BRAF codon(s) 600 any
BRAF any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Chronic Lymphocytic Leukemia
Diffuse Large B Cell Lymphoma
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Mutations of B-RAF have been described in up to 100% of Hairy cell leukemia, 40-70% of Langerhans cell histiocytosis, approximately 50% of Erdheim-Chester disease, approximately 5% of diffuse large B cell lymphoma and plasma cell neoplasms and less than 5% of chronic lymphocytic leukemia. While some reports have found that 10-20% of cases of acute leukemias (ALL or AML) may have BRAF mutations, other reports have described no BRAF in those diseases or in myeloid diseases such as MDS or CML. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). Various B-Raf inhibitors(Vemurafenib, Dabrafenib) have been FDA approved for therapy for some tumor types in certain clinical settings.

Last updated: 2018-11-12 20:40:44 UTC
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Tier 1
EZH2
Variants
EZH2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Atypical Chronic Myeloid Leukemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

EZH2 encodes the histone methyltransferase subunit of the polycomb repressive complex 2 (PRC2) that leads to H3K27me3 and promotes transcriptional repression. EZH2 loss of function mutations (nonsense, frameshift mutations, occasionally occurring as homozygous mutations) may occur throughout the gene and have been reported in less than 10% of patients with acute myeloid leukemia, myelodysplasia, atypical chronic myelogenous leukemia, primary myelofibrosis and up to 12% of patients with chronic myelomonocytic leukemia. EZH2 loss of function mutations may be more frequent (15%) among cases of T cell acute lymphoblastic leukemia. EZH2 mutations have been independently associated with adverse prognosis in MDS and MDS/MPN. Therapeutic targeting of EZH2 is currently under study for some types of lymphoma and solid tumors.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
RAD21
Variants
RAD21 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

RAD21 belongs to the cohesin complex family of genes that encode protein subunits of the cohesion complex, which regulates chromosomal segregation. is a member of the cohesin complex that regulates chromosome segregation during meiosis and mitosis. Loss of function mutations of RAD21 have been described throughout the gene in approximately 1% of cases of myelodysplasia, 1-5% of acute myeloid leukemia (AML), 1% of chronic myeloid leukemia and tend to be mutually exclusive of other mutations in the other components of the cohesin complex (ie, STAG1, SMC3, STAG2, SMC1A). In AML, mutations in the cohesin complex genes tend to be associated with mutations in NPM1. Cohesin complex mutations do not have clear prognostic impact in AML. Cohesin complex mutations are associated with an unfavorable prognosis in myelodysplastic syndrome, and are more frequently found in patients with high IPSS scores and secondary acute myeloid leukemia.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
JAK2
Variants
JAK2 V617F
JAK2 exon(s) 12 insertion
JAK2 exon(s) 12 deletion
JAK2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
Polycythemia Vera
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

JAK2 is a non-receptor tyrosine kinase that mediates signaling via the JAK-STAT pathway. The somatic, activating mutation V617F in the pseudokinase domain of JAK2 has been reported in over 90% of patients with polycythemia vera, 40-70% of essential thrombocythemia, 40-60% of primary myelofibrosis and 50% of MDS/MPN with Ring Sideroblasts and Thrombocytosis. JAK2 mutations have also been reported in CHIP. The small percentage of cases of polycythemia vera that do not carry the JAK2 V617F mutation have somatic, activating mutations in JAK2 exon 12 which typically affect the region encompassing codons 536-547 and are in-frame deletions/insertions, duplications of 8-12 amino acids or missense mutations. Mutations in JAK2 are typically mutually exclusive with mutations in the thrombopoietin receptor (MPL) and calreticulin (CALR), but JAK2 mutations may co-exist with mutations in other genes (ie, IDH1, SF3B1, TET2, ASXL1, etc). Ruxolitinib is a JAK2 inhibitor that has been approved for use in patients with intermediate- and high-risk primary myelofibrosis and is under study in other JAK2+ MPNs. Other JAK2 inhibitors (eg, Pacritinib) are also in various stages of study.

Last updated: 2018-11-12 20:41:32 UTC
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Tier 1
PAX5
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

PAX5 is an important transcription factor in B cell development. Somatic deletions, rearrangements and mutations of PAX5 are seen in approximately 30% of B-ALL. Mutations most commonly include missense and frameshift mutations throughout the gene which typically lead to decreased transcriptional activation by PAX5. A frequent site of mutation is Pro80. Interestingly, a germline variant in PAX5 has been recently described (p.Gly183Ser) that is linked to family history of B-ALL and development of leukemia when associated with 9p deletion(loss of heterozygosity) and retention of the mutant allele in tumor cells; mutations at this codon have also been reported in tumors as a somatic alteration.

Last updated: 2016-06-04 23:05:51 UTC
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Tier 1
ABL1
Variants
ABL1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

ABL1 kinase domain mutations in Philadelphia chromosome positive acute lymphoblastic leukemia and chronic myelogenous leukemia are associated with resistance to some types of tryosine kinase inhibitor therapy. The various mutations span several hundred amino acids (M237 thru E507) and vary in their response to later generation tyrosine kinase inhibitors.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
NOTCH1
Variants
NOTCH1 exon(s) 26 missense
NOTCH1 exon(s) 27 missense
NOTCH1 exon(s) 34 frameshift
NOTCH1 exon(s) 34 nonsense
NOTCH1 exon(s) 34 missense
NOTCH1 exon(s) 26 insertion
NOTCH1 exon(s) 26 deletion
NOTCH1 exon(s) 27 insertion
NOTCH1 exon(s) 27 deletion
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

NOTCH1 encodes a member of the NOTCH family of proteins, which is a group of transmembrane receptors involved in the Notch signaling pathway. Notch signaling regulates cell fate decisions during development, and plays a crucial role in T cell development. Activating mutations of NOTCH1 including missense mutations and inframe inserstions/deletions in the heterodimerization(HD) domains either alone or together with missense, nonsense or frameshift (in/del) mutations in the C terminal PEST domain have been described in approximately 50% of cases of T-ALL. The HD domain or PEST domain mutations may occur together in cis (on the same allele) in ALL. NOTCH1 mutations are very rare in AML. However, NOTCH1 mutations are present in about 27% patients with T-myeloid mixed-phenotypeacute leukemia. The potential utility of therapeutic targeting of activating NOTCH1 mutations in these diseases remains to be elucidated.

Last updated: 2018-11-12 20:40:47 UTC
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Tier 1
GATA3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Interpretation

GATA 3 is a transcription factor important in T cell development and is known to be mutated in certain syndromes(hypoparathroidism, deafness, renal dysplasia). Missense, frameshift and insertion/deletion mutations in the zinc finger domain have been reported in 10-15% of early T cell precursor ALL and may be associated with biallelic mutations or concomitant deletion of the second allele.

Last updated: 2016-06-04 23:29:35 UTC
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Tier 1
PTEN
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Interpretation

PTEN is a lipid and protein phosphatase that negatively regulates the PI3K/AKT/mTOR pathway. PTEN has been reported to show nonsense and frameshift mutations in approximately 10% of adult T cell ALL patients. PTEN mutations may occur together with large deletions of PTEN which are not detected by this assay. PTEN abnormalities are thought to be more frequent in NOTCH1/FBXW7 unmutated T-ALL and appear to be mutually exclusive of NRAS/KRAS mutations in T-ALL. PTEN alterations are associated with reduced or absent protein expression and may be associated with a poor prognosis in adult T cell ALL, but not pediatric T-ALL, according to some studies. PTEN alterations appear to be infrequent among myeloid malignancies.

Last updated: 2016-06-04 23:31:10 UTC
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Tier 1
NT5C2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

The cytosolic 5'-nucleotidase II gene (NT5C2), encodes a 5'-nucleotidase that is responsible for the inactivation of nucleoside-analog chemotherapy drugs. NT5C2 dephosphorylates and inactivates 6-thioinositol monophosphate and 6-thioguanosine monophosphate which mediate the cytotoxic effects of 6-mercaptopurine (6-MP) and 6-thioguanine (6-TG), two nucleoside analogs commonly used in the treatment of ALL. Activating mutations of NT5C2 have been reported in 19%of relapsed T cell ALLs and 3-10% of relapsed B-precursor ALLs. NT5C2 mutant proteins show increased nucleotidase activity and conferred resistance to chemotherapy with 6-mercaptopurine and 6-thioguanine, suggesting that relapse-specific mutations in NT5C2 may act as a mechanism of resistance to 6-MP and a genetic driver of relapse in ALL.

Last updated: 2016-06-05 00:57:49 UTC
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Tier 1
SMC3
Variants
SMC3 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SMC3 is a member of the cohesin complex and has been found to be mutated in approximately 1% of acute myeloid leukemia and 1% myelodysplastic syndromes. The mutations of SMC3 described tend to be missense mutations that occur throughout the gene. Mutations of the various members of the cohesin complex appear to occur in a mutually exclusive manner. Cases of AML with mutations of the cohesin complex may be associated with mutations of NPM1. Currently there does not appear to be any clear prognosistic impact of cohesin complex gene mutations in AML. Cohesin complex mutations are associated with an unfavorable prognosis in myelodysplastic syndrome, and are more frequently found in patients with high IPSS scores and secondary acute myeloid leukemia.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
WT1
Variants
WT1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

WT1 encodes for a transcription factor containing an N-terminal transactivation domain and a C-terminal zinc-finger domain necessary for the development of the urogenital system. The precise roles of WT1 in normal and malignant hematopoiesis remain uncertain. New emerging supports a novel role of WT1 in the regulation of epigenetic programs through its interaction with TET proteins in the 5=hydroxymethylation of cytosines. WT1 mutations are found in 6% of acute myeloid leukemia overall, and about 8-13% in cytogenetically normal AML. Higher frequencies are present in biallelic CEBPA mutated acute myeloid leukemia (14%), followed by t(15;17)/PML-RARA (11.0%), and FLT3-ITD (8.5%,). WT1 mutations are associated with younger age in AML. WT1 mutations are typically putative loss of function mutations and most frequently occur in exon 7 or exon 9. About 75% of these mutations are frameshift, and the remaining are missense, nonsense, splice site or inframe indel mutations. In some cases two or more mutations in WT1 may occur. In addition, WT1 mutations may coexist with mutations in NPM1, FLT3, among others. WT1 is overexpressed in the majority of AML, giving rise to the concept that it may act as both a tumor suppressor and oncogene, depending on the context. Several studies showed that WT1 mutations are associated with a worse prognosis in cytogenetically normal acute myeloid leukemia, although one study including patients from three German-Austrian AML study protocols demonstrated no association with overall survival or relapse-free survival. Given its over-expression in AML, clinical trials employing peptide vaccination strategy against WT1 has been ongoing in AML patients.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
SF1
Variants
SF1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SF1 is a member of the spliceosome machinery and missense mutations have been described in approximately 1% of myeloid neoplasms including myelodysplasia, acute myeloid leukemia and myeloproliferative neoplasms.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
EED
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

EED is a component of the polycomb repressor complex 2 (PRC2). Missense and frameshift mutations have been described in T cell acute lymphoblastic leukemia and may be enriched in the early T cell precursor subtype of that disease(found in appromimately 5% of such cases). In addition, mutations of EED have been described in, overall, less than 5% of myeloid neoplasms including cases of CMML, AML and MDS. EED mutations tend to be exclusive of mutations in EZH2, another component of PRC2. Deletions of EED have also been described which are not detected by this assay.

Last updated: 2016-06-05 01:00:57 UTC
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Tier 1
ATM
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
Chronic Lymphocytic Leukemia
Mantle Cell Lymphoma
T Cell Lymphoproliferative Disorder
Interpretation

The ataxia telangiectasia mutated (ATM) gene is important in the cellular response to DNA double stranded breaks. ATM genetic abnormalities include deletions and mutations which may occur alone or together. ATM mutations have been reported to occur in approximately 35% of chronic lymphocytic leukemia; biallelic ATM inactivation (deletions and mutations) are associated with a poor outcome in some setttings compared to monoallelic ATM deletion or mutation in CLL. The ATM mutations occur throughout the gene and are putative loss of function variants (missense, nonsense and frameshift mutations). ATM mutations have also been reported in other types of lymphoma including mantle cell lymphoma (50%) and T cell prolymphocytic leukemia (46%).

Last updated: 2016-06-05 01:03:17 UTC
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Tier 2
CBL
Variants
CBL any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

CBL (casitas-B-lineage lymphoma) gene mutations have been identified in approximately 15% of chronic myelomonocytic leukemia, 15% of juvenile myelomonocytic leukemia, 15% of secondary AML(from MDS or MDS/MPN overlap syndrome) and rare or absent in polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic eosinophilic leukemia and MDS. Also, CBL mutations are found in only 1% of de novo acute leukemias and tend to be associated with core binding factor acute myeloid leukemia (AML) among AML cases. CBL is a Ras pathway gene and has been associated with hereditary myeloid disorders. CBL ubiquitinylates and degrades activated receptor and non-receptor tyrosine kinases via the E3-ligase activity of its RING domain. CBL also acts as an adaptor for downstream cell signal transduction, via its tyrosine kinase binding domain. Most variants of the CBL protein are missense substitutions in the zinc binding RING domain (amino acids 366-420) (exons 8-9) that abrogate CBL ubiquitin ligase activity but retain other functions. Pathogenic mutations are believed to be oncogenic by a variety of potential mechanisms including increased Ras pathway activation, aberrant phosphoSTAT5 and/or increased KIT expression in different cellular contexts. Occasionally, two CBL mutations may be present or CBL mutations may be associated with uniparental disomy. In addition, CBL mutations may occur together with mutations in other genes ( RUNX1, ASXL1, TET2 or EZH2 ). According to some studies, mutations of CBL may be associated with reduced overall survival in MDS.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
ETV6
Variants
ETV6 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

ETV6 is a transcriptional repressor and is frequently involved in translocations with a variety of different partner genes in a range of hematologic malignancies. Mutations of ETV6 have been described in <5% of myelodysplastic syndromes and appear to be more frequent (ie, 10-24% of cases) in early T cell precursor type (immature) acute lymphoblastic leukemias. In addition, ETV6 mutations have been reported in association with hereditary myeloid disorders. These mutations occur throughout the gene and typically correspond to loss of function mutations (nonsense and frameshift mutations). ETV6 mutations may occasionally occur in a homozygous/hemizygous manner and tend to occur with mutations in NOTCH1 in lymphoblastic leukemia. In MDS, ETV6 mutations have been independently associated with an adverse prognosis. If clinical findings and family history are concerning for the presence of an inherited disorder, then genetic counseling may be helpful, if clinically indicated.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
KRAS
Variants
KRAS codon(s) 12, 13, 61, 117, 146 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

KRAS is a well known proto-oncogene that belongs to the small GTPase family and functions as a central mediator of downstream growth factor receptor signaling, with a critical role for cell proliferation and survival. Pathogenic mutations in KRAS typically occur in codons 12-13 of exon 2 and codon 61 of exon 3; however, other, non-canonical, pathogenic mutations in KRAS have also been reported in acute myeoid leukemia. KRAS mutations have been described in approximately 3-15% of acute myeloid leukemia, 8-20% of chronic myelomonocytic leukemia, 14% of juvenile myelomonocytic leukemia, 8% of blastic plasmacytoid dendritic cell neoplasm 4% of patients with myelodysplastic syndrome, 2% of primary myelofibrosis, 12% of B cell acute lymphoblastic leukemia (often associated with MLL rearrangement) and 1-2% of T cell acute lymphoblastic leukemia. Investigation into the targetability of this pathway in leukemia has been attempted in some disease models.

Last updated: 2018-11-12 20:40:39 UTC
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Tier 1
PRPF40B
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

PRPF40B is a member of the RNA splicing machinery which has been reported to be rarely mutated (less than 5%) among cases of acute myeloid leukemia, myelodysplasia, chronic myelomonocytic leukemia and myeloproliferative neoplasms. Mutations in PRPF40B are typically missense mutations that may be located throughout the gene. PRPF40B mutations tend to be exclusive of other mutations in the spliceosome pathway.

Last updated: 2016-06-05 01:08:34 UTC
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Tier 2
SH2B3
Variants
SH2B3 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
T Lymphoblastic Leukemia/Lymphoma
B Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SH2B3 encodes the lymphocyte adaptor protein (LNK) which attenuates JAK2 activation and negatively regulates the signaling of the thrombopoietin receptor (MPL) and the erythropoietin receptor. LNK has also shown to bind and regulate mutant signaling molecules found in myeloproliferative neoplasms (MPNs) like MPL-W515L and JAK2-V617F. Several acquired SH2B3 frameshift and missense mutations in the pleckstrin homology domain and NH2-terminal region have been reported in myeloproliferative neoplasms. Somatic mutations of SH2B3 are infrequent in MPN and reported in ~5 to 7% of MPN patients. These mutations can be found in all MPN subtypes and co-exist with other driver genes. In one study, SH2B3 mutations are associated with JAK2, CALR and MPL mutations in 50%, 18% and 13.6% of positive cases. All identified mutations were found throughout the gene, without evidence of a hot spot. SH2B3 mutations may be enriched in blast phase disease with a frequency up to 13% of such cases. Also, approximately 1% of T cell and B cell acute lymphoblastic leukemias have been shown to carry homozygous frameshift or nonsense mutations in SH2B3. Partial deletions of SH2B3 have also been reported in ALL. In addition, the T allele of a nonsynonymous single-nucleotide polymorphism (SNP), rs3184504 (p;W262R, c.784T>C), in exon 2 of the SH2B3 gene has been reported to be more prevalent among JAK2V617F-positive patients than control patients or JAK2 wild type patients. Loss of function mutations in SH2B3 have been shown to lead to increased JAK2/STAT3 signaling and cell proliferation.

Last updated: 2020-10-06 21:21:05 UTC
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Tier 2
PTPN11
Variants
PTPN11 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
B Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

PTPN11 encodes SHP2, a member of the non-receptor protein tyrosine phosphatase (PTP) family that regulates growth factor and cytokine signaling and plays a key role in the proliferation and survival of hematopoietic cells. PTPN11 mutation is directly associated with the pathogenesis of Noonan syndrome and childhood leukemias. Despite its direct function in protein dephosphorylation, SHP2 plays an overall positive role in transducing signals. Germline and somatic mutations that result in increased activity of PTPN11 have been described in Noonan's syndrome (approximately 50%), juvenile myelomonocytic leukemia (35-42%), pediatric and adult myelodysplasic syndromes (4-10%), B cell acute lymphoblastic leukemia (5-10%), as well as pediatric and adult acute myeloid leukemia (5-10%). These gain of function mutations most often occur as heterozygous missense mutations located in exon 3 (SH2 domain) or exon 13 (phosphatase domain) . Within cases of juvenile myelomonocytic leukemia, mutations of PTPN11 tend to be exclusive of mutations in RAS, CBL and NF-1. PTPN11 mutations in adult AML are associated with a normal karyotype and concurrent NPM1 mutation, but no alteration of the FLT3. In one study, myelodysplastic syndromes with PTPN11 mutations were shown to have a worse overall survival. Small molecule inhibitors of PTPN11 are currently being developed.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
FLT3
Variants
FLT3 D835A
FLT3 D835E
FLT3 D835H
FLT3 D835N
FLT3 D835V
FLT3 exon(s) 14 insertion
FLT3 exon(s) 15 insertion
FLT3 codon(s) 835 missense
FLT3 Y842C
FLT3 codon(s) 839 missense
FLT3 codon(s) 842 missense
FLT3 codon(s) 691 missense
FLT3 codon(s) 676 missense
FLT3 codon(s) 697 missense
FLT3 codon(s) 835 any
FLT3 codon(s) 839 any
FLT3 codon(s) 842 any
FLT3 exon(s) 20 any
FLT3 exon(s) 17 any
FLT3 exon(s) 14-23 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

FLT3 is a receptor tyrosine kinase important in hematopoietic cell proliferation and differentiation. In-frame, FLT3 internal tandem duplications (ITD), which show a wide range of number of nucleotides duplicated and/or inserted (eg, 18-204 bp), affect exons 14 and 15 in the FLT3 juxtamembrane/tyrosine kinase domain and have been reported in 20-30% of patients with acute myeloid leukemia. FLT3 ITDs usually occur in cases of AML with a normal karyotype and but may also occur in cases with chromosome abnormalities including t(15;17) or other cytogenetic groups. Individuals with FLT3 mutations are more likely to have AML than MDS and FLT3 mutations in MDS are associated with a poor prognosis. Functional studies have shown that FLT3 ITDs are ligand-independent, gain-of-function mutations. In addition, activating mutations at codon D835 in exon 20 (A-loop of the tyrosine kinase domain, TKD) of FLT3 have been reported in approximately 7-10% of AML. The FLT3 D835 mutations are also ligand-independent, gain-of-function mutations. FLT3 ITD and D835 mutations tend to occur in a mutually exclusive manner; however, the FLT3 D835 mutation or other mutations in the A-loop(eg, D839, Y842) may occur as an acquired resistance mutation in the setting of patients with FLT3 ITD mutations being treated with targeted therapy. In addition, variants at codon N676 and in exon 17 F691, G697 have been associated with resistance to FLT3 targeted therapy. The presence of FLT3 ITD mutation in young patients with AML and normal cytogenetics is thought to be associated with a poor prognosis. On the other hand, the prognostic significance of the FLT3 D835 and TKD mutations appears less clear. More recently, therapeutic targeting of FLT3 in combination with other chemotherapy is available in certain settings for acute myeloid leukemia with FLT3 ITD or TKD mutations. Lastly, in T cell acute lymphoblastic leukemia, up to 20% of cases have been reported to show a FLT3 mutation (TKD or ITD) and are often associated with an ETP(early T cell precursor) phenotype. In addition, FLT3 mutations have also been reported in up to 15% of B-ALL cases ("Ph-like phenotype") and may also be associated with hyperdiploidy and MLL rearrangement. Targetting FLT3 in acute lymphoblastic leukemia therapy may also be possible in some settings.

Last updated: 2018-11-12 20:41:30 UTC
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Tier 2
PDS5B
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

PDS5B is a functional component of the cohesin complex which is very rarely mutated in myeloid neoplasms.

Last updated: 2016-06-05 01:41:59 UTC
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Tier 1
IDH2
Variants
IDH2 R140Q
IDH2 R172K
IDH2 codon(s) 140, 172 any
IDH2 codon(s) 140 missense
IDH2 codon(s) 172 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Primary Myelofibrosis
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

IDH2 is a mitochondrial enzyme involved in citrate metabolism. Mutations at Arg140 and Arg172 of IDH2 are typically heterozygous mutations and considered gain of function mutations that lead to increased levels of 2-hydroxyglutarate which is believed to alter epigenetic regulation (ie, DNA methylation) in AML. Mutations of IDH2 appear to be mutually exclusive of mutations in TET2, another gene involved in regulation of DNA methylation, and also exclusive of mutations in IDH1. Mutations of IDH2 have been shown to lead to increased DNA methylation in AML. IDH2 mutations have been reported in 10-20% of AML and are often associated with a normal karyotype. IDH2 mutations have been reported in less than 5% of cases of MDS and less than 10% of myeloproliferative neoplasms. The prognostic impact of IDH2 mutations in AML appears uncertain due to conflicting reports. In the setting of essential thrombocytosis, primary myelofibrosis and MDS, the presence of IDH2 mutations is associated with reduced survival. Therapeutic targeting with an FDA approved mutant IDH2 inhibitor (enasidenib (AG-221)) has been reported for patients with relapsed or refractory IDH2-mutated AML.

Last updated: 2018-11-12 20:41:32 UTC
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Tier 1
CREBBP
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Diffuse Large B Cell Lymphoma
Follicular Lymphoma
Interpretation

CREB binding protein (CREBBP) is considered to be an epigenetic regulator with diverse functions that include acetyltransferase activity, scaffolding function for transcription factor complexes and ubiquitin ligase activity. CREBBP mutations may occur as germline variants in Rubinstein Taybi syndrome and as somatic variants where they have been described in lymphoid malignancies. Missense, frameshift and nonsense mutations of CREBBP have been reported in 13-43% of B cell acute lymphoblastic leukemia and tend to occur in the HAT domain that is encoded by exons 18 through 29; more specifically, the missense mutations typically cluster in exons 25-27 of the HAT domain, however, mutations in other regions in the protein have been reported and may be important. CREBBP mutations have also been described in diffuse large B cell lymphoma and follicular lymphoma. Deletions/loss of heterozygosity of CREBBP has been described in ALL but are not detectable by this assay. Mutations of CREBBP appear to predominate in hyperdiploid B cell ALL, especially in such cases associated with disease relapse.

Last updated: 2016-06-05 01:47:14 UTC
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Tier 1
CTCF
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Myelodysplastic Syndrome
Interpretation

CTCF is a zinc finger protein involved in a variety of cell functions. Mutations of CTCF including missense, nonsense and frameshift mutations occur throughout the gene and have been reported in approximately 5% of acute megakaryoblastic leukemia, 2% of transient abnormal myelopoiesis, less than 5% of AML, less than 5% of MDS and less than 5% cases of ALL.

Last updated: 2016-06-05 01:48:59 UTC
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Tier 1
PRPF8
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Interpretation

PRPF8 (Pre-MRNA Processing Factor 8) is a component of the RNA splicing machinery. Somatic PRPF8 mutations have been reported in less than 5% of cases of myelodysplastic syndrome/secondary AML and PRPF8 mutation status may be used, together with other clinical and molecular markers, in some prognostic models of MDS .

Last updated: 2016-06-05 01:50:01 UTC
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Tier 1
TP53
Variants
TP53 copy number loss
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Loss of function mutations (missense, nonsense and frameshift mutations) of TP53 have been described in 10-20% of CLL cases and TP53 gene defects tend to be enriched among cases with unmutated IGH variable regions; in some series, TP53 mutations have been reported in approximately 15%-18% of IGHV unmutated CLL cases . TP53 mutations appears to be less common in other types of CLL (eg, less than 5% of IGHV3-21-expressing CLL carried a TP53 defect according to one study). Mutations of TP53 in CLL have been found together with del17p and mutations in other genes such as NOTCH1 and SF3B1. Mutations and deletions of TP53 appear to represent adverse prognostic markers in chronic lymphocytic leukemia.

Last updated: 2018-11-12 20:39:01 UTC
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Tier 2
IKZF3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myeloid Leukemia
Interpretation

IKZF3 is a member of the IKAROS family of transcription factors which are important in lymphoid development. Missense and frameshift mutations of IKZF3 have been reported in approximately 10% of chronic phase and matched blast phase of CML , approximately 10% of blastic plasmacytoid dendritic cell neoplasms and rare cases of acute lymphoblastic leukemia.

Last updated: 2016-06-05 02:00:23 UTC
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Tier 1
STAT3
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
T-Cell LGL Leukemia
T Cell Lymphoproliferative Disorder
NK Cell Lymphoproliferative Disorder
Interpretation

Signal transducer and activator of transcription 3 gene (STAT3) plays an important role in the JAK/STAT signaling pathway induced by cytokine and growth factor receptor activation. STAT3 mutations have been reported in approximately 40% of cases of T-cell large granular lymphocytic leukemia and one third of NK cell lymphoproliferative disorders; these mutations are typically missense mutations or inframe insertions mutations in exons 20 and 21 which encode the Src homology 2 (SH2) domain that mediates the dimerization and activation of STAT protein; these mutations are typically associated with increased transcriptional activity. In addition, the presence of STAT3-mutant T-LGL clones may be found in a subset of patients with aplastic anemia and/or myelodysplastic syndrome. Therapeutic targetting of STAT3 is currently under investigation in various settings.

Last updated: 2016-06-05 02:01:56 UTC
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Tier 1
CD79B
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
Diffuse Large B Cell Lymphoma
Interpretation

CD79B is a component of the cell surface B cell receptor complex and is upstream of the NFkB signaling pathway. CD79B mutations at Tyr196 have been reported in approximately 20% of primary testicular diffuse large B cell lymphomas and approximately 10-15% of diffuse large B cell lymphomas overall. CD79B mutations are typically associated with increased cell surface expression of CD79B due to attenuation of the usual negative feedback by LYN kinase. CD79B mutations have been reported to coexist with MYD88 mutations and may be enriched in the activated B cell type of diffuse large B cell lymphoma. The potential for therapeutic targeting of this pathway is currently under investigation.

Last updated: 2016-06-05 02:02:54 UTC
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Tier 1
SRSF2
Variants
SRSF2 codon(s) 95 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Primary Myelofibrosis
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SRSF2 is a member of the serine/arginine-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. It interacts with other spliceosomal components bound to both the 5- and 3-splice sites during spliceosome assembly. SRSF2 mutations typically occur as missense mutations at Pro95. SRSF2 mutations have been reported in approximately 40% of cases of chronic myelomonocytic leukemia, but they may not have prognostic significance in that entity. Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodysplasia and monocytosis, including but not limited to, chronic myelomonocytic leukemia. In addition, SRSF2 mutations have been reported in approximately 15-20% of cases of myelodysplastic syndrome. SRSF2 mutations have also been described in 5-20% of patients with acute myeloid leukemia and appear to be enriched among AML patients with reduced blast counts. SRSF2 has been found to be mutated in approximately 10% of cases of primary myelofibrosis where mutations may occur together with mutations in JAK2, MPL, TET2, CBL, ASXL1, EZH2, IDH1/2. SRSF2 mutations are also present in 8% of blastic plasmacytoid dendritic cell neoplasm and 3% of polythemia vera. SRSF2 mutations tend to be (although are not entirely) exclusive of mutations in other splicing factor components. SRSF2 mutations are associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes), primary myelofibrosis, polycythemia vera, and KIT D816V-mutated advanced systemic mastocytosis. SRSF2 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of elderly patients with de novo acute myeloid leukemia and therapy-related AML with worse clinical outcomes.

Last updated: 2018-11-12 20:40:58 UTC
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Tier 1
SETBP1
Variants
SETBP1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Atypical Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Acute Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SETBP1 encodes a protein which is believed to inhibit PP2A phosphatase activity through SET stabilization. In addition, SETBP1 binds to gDNA in AT-rich promoter regions, causing activation of a network of development genes through recruitment of a HCF1/KMT2A/PHF8 epigenetic complex. Heterozygous, somatic, missense mutations are predominantly hot-spot mutations within the SKI homologous region in exon 4, which result in the functional loss of the degron motif responsible for the short half-life of the protein. Therefore, these mutations result in an increased half-life and accumulation of the mutated SETBP1, and thus increased inhibition of the oncosupressor PP2A through the SETBP1-SET-PP2A axis. In addition, mutations in SETBP1 potentially deregulate gene transcription mediated by SETBP1. SETBP1 mutations have been described in approximately 25% of atypical chronic myelogenous leukemia, 30% of juvenile myelomonocytic leukemia, 17% of secondary acute myeloid leukemia, 13% of myeloproliferative/myelodysplastic syndrome with ring sideroblasts and thrombocytosis, and 5-15% of chronic myelomonocytic leukemia. SETPB1 mutations appear to be rare (< 5%) or absent among cases of primary acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndromes, myeloproliferative neoplasms and chronic lymphocytic leukemia. SETBP1 mutations may be seen together with mutations in other genes such as ASXL1. Mutated SETBP1 provides supportive evidence for the diagnosis of atypical chronic myeloid leukemia, BCR-ABL1-negative in the 2016 revision of the WHO classification.SETBP1 mutations are associated with disease progression in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes), and unfavorable prognosis in chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia, and MDS/MPN with ring sideroblasts associated and thrombocytosis.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
JAK3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Cell Lymphoproliferative Disorder
NK Cell Lymphoproliferative Disorder
T Lymphoblastic Leukemia/Lymphoma
Interpretation

JAK3 is a member of the Janus family of tyrosine kinases, which are involved in cytokine receptor-mediated signaling through the JAK/STAT pathway. JAK3 is believed to be essential for the development of lymphoid cells, especially mature T-cells and NK cells. Missense mutations of JAK3 have been described in approximately 34% of T cell prolymphocytic leukemias, 20% of natural killer cell lymphoma, 10% of T cell acute lymphoblastic leukemia including early T cell precursor T cell ALL and occasional cases of Down syndrome associated -myeloid leukemia, -transient leukemia and -acute megakaryoblastic leukemia. In addition, subclonal, secondary mutations of JAK3 have been reported in approximately 10% of juvenile myelomonocytic leukemia and may occur together with mutations the RAS pathway genes. Mutations of JAK3 are typically activating (gain of function) mutations and are potential therapeutic targets in some settings.

Last updated: 2016-06-05 02:09:42 UTC
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Tier 2
MEF2B
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
Mantle Cell Lymphoma
Diffuse Large B Cell Lymphoma
Follicular Lymphoma
Interpretation

MEF2B is a calcium-regulated transcription factor that recruits histone-modifying enzymes. Missense and truncating MEF2B mutations have been reported in the MADS box and MEF2B domains in up to 5% of cases of mantle cell lymphoma, and up to 20% of diffuse large B cell lymphoma and follicular lymphoma.

Last updated: 2016-06-05 02:11:08 UTC
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Tier 1
CEBPA
Variants
CEBPA any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

Mutations of the transcription factor CEBPA (CCAAT/enhancer binding protein alpha) have been reported in approximately 15% of patients with acute myeloid leukemia (AML) with a normal karyotype. CEBPA plays a role in the differentiation of granulocytes. Two types of mutations have been reported: N-terminal changes which result in a truncated dominant negative isoform lacking one of the N terminal domain transactivation domains and C-terminal mutations which are in-frame insertions or deletions affecting the leucine zipper and preventing dimerization and DNA binding. Patients may carry both N- and C-terminal mutations affecting different alleles. Isolated, biallelic ("double") mutations (not single mutation) of CEBPA appear to be associated with a favorable-risk group of normal karyotype AML. CEBPA mutations have also been reported in association with hereditary myeloid disorders; 5-10% of CEBPA double mutant AML cases may harbor germline mutations. Recommend correlation with clinical findings including family history and genetic counseling, if there is clinical suspicion of an inherited disorder.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 2
CNOT3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Interpretation

CNOT3 is part of the CCR4-NOT complex that regulates gene expression and may act as a tumor suppressor. CNOT3 is mutated in approximately 8% of adult T cell acute lymphoblastic leukemia cases.

Last updated: 2016-06-05 02:12:53 UTC
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Tier 2
U2AF2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

U2AF2 (U2AF65) is a member of the RNA splicing machinery and has been be reported to show missense mutations in less than 1% of cases of myelodysplastic syndromes and approximately 1% of cases of chronic myelomonocytic leukemia.

Last updated: 2016-06-05 02:13:42 UTC
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Tier 1
ASXL1
Variants
ASXL1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Primary Myelofibrosis
Mast Cell Neoplasm
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

ASXL1 regulates epigenetic functions including histone and chromatin modifications. ASXL1 mutations have been reported in 40-50% of chronic myelomonocytic leukemia(CMML), 20% of myelodsyplastic syndromes, 20-35% of primary myelofibrosis, 15% of systemic mastocytosis, 30% of patients with secondary acute myeloid leukemia and 5-10% of primary acute myeloid leukemia. ASXL1 mutations have also been described in CHIP and CCUS. In CMML, missense mutations of ASXL1 appear to be less common (less than 10% of cases). Nonsense and frameshift mutations (but apparently not missense mutations) of ASXL1 have been reported to carry an adverse prognostic impact in cases of chronic myelomonocytic leukemia. In addition, ASXL1 mutations have been associated with adverse outcome in myelodysplasia, primary myelofibrosis and systemic mastocytosis. Among cases of AML, ASXL1 mutations appear to be associated with adverse prognosis in some subtypes of AML according to some, but not all, studies. ASXL1 mutations may coexist with mutations of splicing factor components, TET2 and RUNX1; for example, co-existence of U2AF1 and ASXL1 mutations have been described in CMML and primary myelofibrosis; While in AML, ASXL1 mutations have been reported to be exclusive of NPM1 mutations according to some studies.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

GNAS (Guanine Nucleotide Binding Protein, Alpha, Stimulating Activity Polypeptide, G-S-alpha) is a component of the heterotrimeric G protein complex that has been shown to be mutated in less than 1% of myelodysplastic syndrome. Mutations of Arg201 of GNAS are typically activating mutations which have been described in various types of solid tumors and McCune Albright syndrome.

Last updated: 2016-06-05 02:16:46 UTC
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Tier 1
RUNX1
Variants
RUNX1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Chronic Myelomonocytic Leukemia
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

RUNX1(AML1, CBFA2) encodes the alpha subunit of core binding factor and is a transcription factor important in normal hematopoietic development. RUNX1 mutations have been reported in approximately 10% of myelodysplastic cases, 5-15% of acute myeloid leukemia, 8-37% of chronic myelomonocytic leukemia, 10% of T cell acute lymphoblastic leukemia, 3% of systemic mastocytosis, 2% of essential thrombocythemia and 2% of polycythemia vera. The mutations include frameshift, missense, nonsense, and splice site mutations. Typically, the Runt domain and the region just downstream of the Runt domain are affected and the mutations tend to be monoallelic. AML with RUNX1 mutation which does not fulfill the diagnostic criteria for other specific AML subtypes in the categories of AML with recurrent genetic abnormalities, therapy-related myeloid neoplasms, or AML with myelodysplasia-related changes is now classified the provisional entity of AML with mutated RUNX1. RUNX1 mutations may be associated with Trisomy 8 or MLL-PTD in AML according to some studies. They tend not to occur in AML cases with favorable cytogenetic findings and appear to be exclusive of NPM1 or CEBPA mutations in AML. Myeloid neoplasms, predominantly MDS/AML, developing in patients, usually at a young age, with a familial platelet disorder and germline monoallelic RUNX1 mutations are categorized as myeloid neoplasms with germline RUNX1 mutation. Of note, RUNX1 may also be involved in large intragenic deletions and translocations (e.g., t(8;21)(RUNX1-ETO), t(3;21)(RUNX1-EVI1), t(12;21)(TEL-RUNX1) which are not detected by this assay. Mutated RUNX1 is a poor-risk prognostic marker in AML unless it co-occurs with favorable-risk AML subtypes (NCCN Guidelines for AML). RUNX1 nonsense or frameshift mutations are associated with an unfavorable prognosis in myelodysplastic syndrome, independent of IPSS, IPSS-R, age, and other gene mutations (NCCN Guidelines for Myelodysplastic Syndromes). RUNX1 mutations are independently associated with unfavorable outcomes and shorter survival after hematopoietic stem cell transplantation in patients with myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia. RUNX1 mutations are also associated with an unfavorable prognosis chronic myelomonocytic leukemia and systemic mastocytosis.

Last updated: 2019-08-28 14:54:01 UTC
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Tier 1
U2AF1
Variants
U2AF1 codon(s) 34 missense
U2AF1 codon(s) 157 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

U2AF1 encodes for the small subunit of the U2 auxiliary factor, which is a non-small nuclear ribonucleoprotein (non-snRNP) required for the binding of U2 snRNP to the pre-mRNA branch site and plays critical role in RNA splicing. U2AF1 is one of several spliceosome complex genes frequently mutated in a variety of hematologic malignancies. Two hotspot mutations (S34 in exon 2 and Q157 in exon 6) occur within the two zinc-finger domains of the U2AF1 protein. These mutations have been reported in approximately 4- 9% of chronic myelomonocytic leukemia, 8-11% of cases of myelodysplastic syndrome (typically without ring sideroblasts), 16% of primary myelofibrosis, 12% of blastic plasmacytoid dendritic cell neoplasm, 4% of acute myeloid leukemia and 1% of essential thrombocythemia. U2AF1 mutations are associated with an unfavorable prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes) and essential thrombocythemia, and decreased response to lenalidomide in myeloid neoplasms with and without del(5q). U2AF1 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of therapy-related AML or elderly de novo AML with worse clinical outcomes. U2AF1 mutations have been associated with altered splicing patterns in vitro and in vivo, and may play a significant role in the pathogenesis of myeloid malignancies due to selective mis-splicing of tumor-associated genes.

Last updated: 2018-11-12 20:41:11 UTC
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Tier 2
SF3A1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myelomonocytic Leukemia
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

SF3A1 is a component of the RNA splicing machinery. Missense mutations of SF3A1 are rare in myelodsyplasia, chronic myelomonocytic leukemia and acute myeloid leukemia (less than 2% of cases).

Last updated: 2016-06-05 02:22:15 UTC
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Tier 2
EP300
Variants
EP300 any mutation
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

EP300 is a histone acetyltransferase and transcriptional coactivator. Somatic mutations of EP300 have been described in cases of T cell acute lymphoblastic leukemia and other lymphoid malignancies including diffuse large B cell lymphoma and follicular lymphoma. Occasional splice site mutations have also been described which are not detected by this assay. EP300 mutations have also been described in the Rubinstein-Taybi developmental syndrome.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 1
CRLF2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

Cytokine receptor-like factor 2 (CRLF2) is a type I cytokine receptor subunit that dimerizes with IL7R to form the receptor for thymic stromal lymphopoietin (TSLP). Heterozygous, somatic, gain-of-function mutations introducing cysteines in the transmembrane domain have been described in up to 20% of B cell acute lymphoblastic leukemias (ALL). These mutations cause ligand independent dimerization via disulfide bonds. The disulfide bond is critical for the activation since elimination of the cysteines abrogated the cytokine independent growth. In addition, more recently, another activating, non-cysteine mutation in the heterodimerization domain of CRLF2 has been reported.

Last updated: 2016-06-05 02:24:17 UTC
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Tier 1
ZRSR2
Variants
ZRSR2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

ZRSR2 endoes a component of the RNA splicing machinery which associates with the U2 auxillary factor and is involved in the recognition of the 3'-splice site during the stages of spliceosome assembly. Mutations in ZRSR2 have been reported in approximately 3-11% of myelodysplasia, 4-8% of chronic myelomonocytic leukemia, 8% of blastic plasmacytoid dendritic cell neoplasm and less than 5% of acute myeloid leukemia and myeloproliferative neoplasms. Unlike other spliceosomal genes, ZRSR2 mutations do not occur in select "hot spots". Nearly all reported mutations are nonsense or frameshift mutations, compatible with loss-of-function mutations and suggesting a tumor suppressor role of ZRSR2. ZRSR2 mutations tend to be exclusive of mutations in most other components of the RNA splicing machinery. Aberrant splicing of U12-type introns has been shown to be a hallmark feature of MDS with ZRSR2 mutations. ZRSR2 mutations are associated with an unfavorable prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes). ZRSR2 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of therapy-related AML and elderly de novo AML with worse clinical outcomes.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 1
BCOR
Variants
BCOR any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

BCOR is a ubiquitously expressed nuclear protein that is a transcriptional corepressor important in several cellular processes. Somatic, nonsense and frameshift mutations throughout BCOR have been reported in approximately 7% of chronic myelomonocytic leukemia, 4% of patients with myelodysplastic syndrome(MDS), 4% of primary acute myeloid leukemia and appear to be associated with RUNX1 and DNMT3A mutations . Also, BCOR mutations may be enriched among cases of AML lacking NPM1, CEBPA, FLT3-ITD, IDH1 and MLL-PTD alterations. BCOR mutations tend to be subclonal in MDS, clonal in primary AML and are believed to have significance as loss of function mutations in a tumor suppressor gene that affect the functional allele in male and female patients. The presence of BCOR mutation in patients with MDS and AML has been associated with poorer overall survival according to some studies.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 2
GATA1
Variants
GATA1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

The GATA1 transcription factor is important in the development of erythroid and megakaryocytic lineages. Amino-terminal, small insertion/deletion(frameshift), nonsense and missense mutations of GATA1 have been described in almost all patients with transient abnormal myelopoiesis(TAM) and acute megakaryoblastic leukemia associated with Down syndrome (Trisomy 21)(DS-AMKL). Studies suggest that the cases of TAM which progress to DS-AMKL are associated with the acquisition of additional driver mutations in other genes including the cohesin complex genes as well as CTCF and EZH2. The amino-terminal GATA1 mutations lead to a lack of the N-terminal amino acids and translation from an alternate start codon (methionine at position 84 in exon 3). GATA1 mutations appear to be rare in acute megakaryoblastic leukemia not associated with Down syndrome. GATA1 mutations have also been reported in the context of hereditary myeloid disorders. If clinical findings and family history are concerning for an inherited disorder, then genetic counseling may be helpful, if clinically indicated.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 2
SMC1A
Variants
SMC1A any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Chronic Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SMC1A belongs to the cohesin complex family of genes that encode protein subunits of the cohesion complex, which regulates chromosomal segregation. SMC1A has been reported to show somatic, missense mutations throughout the gene in less than 5% of cases of acute myeloid leukemia and less than 5% of chronic myeloid leukemia. Mutations of SMC1A are mostly mutually exclusive of mutations in other components of the cohesin complex. Mutations of SMC1A may be enriched in male patients since the gene is located on the X chromosome. Cohesin complex mutations are associated with an unfavorable prognosis in myelodysplastic syndrome, and are more frequently found in patients with high IPSS scores and secondary acute myeloid leukemia.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 1
STAG2
Variants
STAG2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Chronic Myelomonocytic Leukemia
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Chronic Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

STAG2 belongs to the cohesin complex family of genes that encode protein subunits of the cohesion complex, which regulates chromosomal segregation. STAG2 has been reported to show somatic, nonsense, frameshift and occasional missense mutations throughout the gene in 6% of cases of myelodysplasia, 10% of chronic myelomonocytic leukemia, 6% of cases of acute myeloid leukemia, and less than 5% of chronic myeloid leukemia and myeloproliferative neoplasms. Mutations of STAG2 are mostly mutually exclusive of mutations in other components of the cohesin complex. STAG2 mutation is associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic syndromes). STAG2 mutations are also reported to be highly specific for secondary acute myeloid leukemia, and may also be helpful in identifying a subset of elderly patients with de novo acute myeloid leukemia or therapy-related AML with worse clinical outcomes.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 2
BCORL1
Variants
BCORL1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

BCORL1 is a transcriptional corepressor and putative tumor suppressor gene. Somatic, nonsense and frameshift mutations have been reported throughout BCORL1 in 6% of acute myeloid leukemia, 10% of patients with acute myeloid with myelodysplasia related changes, less than 1% of myelodysplasia and less than 2% of chronic myelomonocytic leukemia. BCORL1 is located on the X-chromosome.

Last updated: 2018-11-12 20:40:43 UTC
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Tier 2
PHF6
Variants
PHF6 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

PHF6 encodes a member of the plant homeodomain (PHD)-like finger (PHF) family with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation. It is localized to the nucleolus and may play a role in recognizing methylation status of histone lysines. Somatic, nonsense, frameshift and occasional missense mutations throughout PHF6 have been reported in up to 38% of cases of T cell acute lymphoblastic leukemia. In T-ALL, PHF6 mutations often co-exist with NOTCH1 mutations. PHF6 mutations have also been reported in approximately 3% of cases of acute myeloid leukemia, less than 5% of chronic myeloid leukemia in blast phase, and 3% of myelodysplastic syndrome. In acute myeloid leukemia, PHF6 mutations have been associated with male preponderance and reduced overall survival in patients with normal karyotype or intermediate-rish cytogenteics abnormalities. Mutated PHF6 is more frequent in MDS cases with excess blasts, but there appears to be no association with survival (NCCN Guidelines for Myelodysplastic Syndromes). PHF6 mutation status does not appear to affect outcome in T-ALL according to some studies.

Last updated: 2019-08-28 14:54:02 UTC
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Tier 1
RPL10
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Interpretation

RPL10 is a ribosomal protein of the 60S ribosomal subunit and shows missense mutations in approximately 5-8% of pediatric patients with T-cell acute lymphoblastic leukemia. The most common mutation is at p.Arg98. Functional studies suggest that the p.Arg98Ser mutation of RPL10 is associated with a ribosomal biogenesis defect. RPL10 is located on the X chromosome and RPL10 mutations may be enriched in male patients.

Last updated: 2016-06-05 02:33:51 UTC
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Tier 2
BRCC3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

BRCC3 is a component of the DNA repair pathway. Nonsense and missense mutations have been reported in less than 5% of myelodysplasia.

Last updated: 2016-06-05 02:34:55 UTC
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Tier 1
CALR
Variants
CALR exon(s) 9 frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
MDS with Ring Sideroblasts
Myelodysplastic Syndrome
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
Mast Cell Neoplasm
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

Calreticulin(CALR) is an endoplasmic reticulum chaperone protein. Somatic insertions and deletions in exon 9 of calreticulin that cause a +1bp frameshift and a novel carboxy-terminal peptide in mutant calreticulin have been reported in 70% of JAK2/MPL-negative essential thrombocythemia (ET)and 56-88% of JAK2/MPL-negative primary myelofibrosis(PMF). In addition, CALR mutations have been reported in approximately 10% of patients with myelodysplasia, including JAK2/MPL-negative refractory anemia with ring sideroblasts (RARS-T) where it may co-occur with mutations in SF3B1. In ET, PMF, and RARS-T, calreticulin mutations appear to be mutually exclusive of mutations in JAK2 or MPL. The CALR mutations lead to loss of the endoplasmic reticulum retention motif (KDEL) sequence in the carboxy-terminal portion of mutant CALR. Calreticulin mutations appear to be absent in polycythemia vera, acute myeloid leukemia, chronic myeloid leukemia, systemic mastocytosis, lymphoid malignancies and are rare in atypical chronic myeloid leukemia and chronic myelomonocytic leukemia. The most common 52bp deletion mutation (Type 1) in CALR has been shown to lead to cytokine-independent growth and activation of STAT5. Type 2 (5 bp insertion) mutations have also been described. This represents a potentially targettable pathway alteration. Patients with some types of mutant CALR may show improved survival and lower risk of thrombosis compared to patients with mutant JAK2, according to some, but not all studies.

Last updated: 2018-11-12 20:41:00 UTC
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Tier 1
MAP2K1
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Hairy Cell Leukemia
Interpretation

MAP2K1(MEK1) is a kinase which is downstream of BRAF and upstream of ERK-1/-2 in the MAPK pathway. MAP2K1 missense mutations and small in frame deletions have been reported in approximately 50% of hairy cell leukemia-variant (HCL-variant) cases, regardless of IGHV4-34–status, and greater than 50% of cases of IGHV4-34–positive classic hairy cell leukemia (classic HCL). These mutations are predicted to increase the basal enzymatic activity. MAP2K1 mutations appear to be mutually exclusive of the BRAF p.Val600Glu mutation, which appears to be largely specific to IGHV4-34–negative, classic HCL. Nevertheless, MAP2K1 mutations have been described as a mechanism of resistance to targetted therapy with BRAF inhibitors. The MAPK pathway alterations are potentially targetable.

Last updated: 2016-06-05 02:39:09 UTC
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Tier 1
PIGA
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Interpretation

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hemolytic disorder that shows intravascular hemolysis and hemoglobinuria. Other clinical findings include thrombocytopenia and/or leukocytopenia and recurrent venous thrombosis. PNH results from the expansion of an abnormal clone of hematopoietic stem cells harboring somatic mutation in phosphotidylinositol glycan complementation class A (PIGA) gene, which appears to have a survival advantage. The PIGA gene maps to Xp22.1; therefore only one allele of PIGA is transcribed in both sexes because of X inactivation. Pathogenic mutation results in a deficiency in the surface expression of all GPI-anchored proteins (GPI-AP) because of defective synthesis of glycosylphosphatidylinositol (GPI). In all reported cases of acquired PNH, the mutation is detected only in the PIGA gene. PIGA germline mutations have been described in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 . Pathogenic mutations in PIGA tend to be nonsense, frameshift and occasionally splice site and missense mutations occurring throughout the gene. Detection of PNH clones by flow cytometry is done by studying the expression of GPI-AP on RBC and PB leukocytes using monoclonal antibodies specific for these proteins or by studying the GPI anchor itself, using FLAER. Correlation with other clinical and lab findings as well as family history is recommended. Genetic counseling may be helpful, if clinically indicated.

Last updated: 2016-06-07 01:43:40 UTC
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Tier 2
EGFR
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Interpretation

Despite pre-clinical data and case reports of response to EGFR inhibitors, the EGFR inhibitor gefitinib does not appear to be effective in the treatment of advanced AML .

Last updated: 2016-06-05 02:44:56 UTC
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Tier 1
GNB1
Variants
GNB1 codon(s) 57 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Acute Myeloid Leukemia
Interpretation

Guanine nucleotide binding protein (G protein), beta polypeptide 1(GNB1) encodes a beta subunit of heterotrimeric G-proteins. Recurrent missense mutations at the Lys57 codon of GNB1 (eg, p.K57E, p.K57N, p.K57T) in the WD40 repeat motif have been reported in less than 5 % of myelodysplasia/secondary acute myeloid leukemia and de novo AML. The lysine at codon 57 of GNB1 has been reported to interact with the G-protein subunit alpha(GNAS), which itself has also been shown to be recurrently mutated in myelodysplasia. According to some studies, Lys57Ala mutations lead to altered downstream signaling in some G-protein coupled receptor signaling pathways. Overall, these findings suggests that mutations at Lys57 of GNB1 are pathogenic. In addition, frameshift mutation at codon 53 of GNB1 has also been described in myelodysplasia.

Last updated: 2016-06-05 02:47:45 UTC
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Tier 1
JAK2
Variants
JAK2 codon(s) 683 missense
JAK2 any mutation
Primary Sites
Bone Marrow
Blood
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

Mutations at codon R683 of JAK2, have been previously described in B-ALL (especially Down Syndrome associated B-ALL) and represent a mutational "hotspot"; Some variants at this codon (R683) are known to be activating mutations. Cases of B-ALL with JAK2 mutations tend to also show rearrangement/overexpression of CRLF2; these are potentially targetable pathway alterations. Such cases tend to have a BCR/ABL-like transcriptional signature.

Last updated: 2018-11-12 20:41:32 UTC
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Tier 1
NOTCH1
Variants
NOTCH1 exon(s) 34 frameshift
NOTCH1 exon(s) 34 nonsense
NOTCH1 exon(s) 34 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Interpretation

NOTCH1 mutations have also recently been reported in approximately 10% of chronic lymphocytic leukemia and are typically PEST domain mutations in that disease. In CLL, NOTCH1 mutations and tend to be exlusive of SF3B1 mutations and possibly TP53 mutations, although some studies demonstrate that NOTCH1 mutations are associated with mutations of TP53. In CLL, the presence of NOTCH1 mutations has been associated with trisomy 12 and aggressive biologic features(CD38+, ZAP70+, unmutated IgH variable region) and adverse prognosis in some settings. The potential utility of therapeutic targeting of activating NOTCH1 mutations in these diseases remains to be elucidated.

Last updated: 2016-06-04 23:28:05 UTC
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Tier 1
TP53
Variants
TP53 copy number loss
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. In terms of myeloid disorders, missense, nonsense, and frameshift mutations of TP53 tend to occur in the DNA binding domain and have been reported in approximately 4% of cases of AML where they tend to be associated with a poorer prognosis and an adverse cytogenetic risk profile. TP53 mutations also occur in approximately 10% of patients with myelodysplastic syndrome (MDS) and are often associated with poorer prognosis, adverse cytogenetic profile and deletion of 5q either in isolation or as part of a complex karyotype.

Last updated: 2016-06-05 01:55:37 UTC
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Tier 1
TP53
Variants
TP53 copy number loss
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Among cases of acute lymphoblastic leukemia, overall TP53 mutations are reported to occur in less than 10% of cases. However, TP53 mutations have a very high prevalence (approximately 90%) among cases of ALL with low hypodiploid karyotype and in this setting are often associated with monosomy 17 and may be associated with germline TP53 mutations in a significant proportion of such cases in children.

Last updated: 2016-06-05 01:58:34 UTC
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Tier 1
MAP2K1
Variants
MAP2K1 C121S
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
Hairy Cell Leukemia
Follicular Lymphoma
Langerhans Cell Histiocytosis
Interpretation

The p.C121S mutation has been associated with resistance to mutant BRAF inhibitors.

Last updated: 2017-01-20 03:31:52 UTC
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Tier 1
BTK
Variants
BTK C481S
Primary Sites
Lymph Node
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Mantle Cell Lymphoma
Interpretation

The BTK p.C481S variant has been previously reported to be associated with Ibrutinib resistance in patients with chronic lymphocytic leukemia.

Last updated: 2017-01-20 03:34:31 UTC
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Tier 1
AKT3
Variants
Primary Sites
Blood
Bone Marrow
Skin
Kidney
Tumor Types
Chronic Myeloid Leukemia
Other Acute Leukemia
Melanoma
Clear Cell Renal Cell Carcinoma
Interpretation

AKT3 is closely related to AKT1. Activating mutations in AKT1 such as p.E17K may be associated with sensitivity to AKT inhibitors. AKT3 activating mutations might also confer sensitivity to AKT inhibitors, although the significance of this variant is uncertain.

Last updated: 2017-01-20 03:43:38 UTC
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Tier 1
AKT2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Myeloid Leukemia
Other Acute Leukemia
Interpretation

AKT2 is closely related to AKT1. Activating mutations in AKT1 such as p.E17K may be associated with sensitivity to AKT inhibitors. AKT2 activating mutations might also confer sensitivity to AKT inhibitors, although the significance of this variant is uncertain.

Last updated: 2017-01-20 03:44:03 UTC
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Tier 2
ARID1A
Variants
ARID1A any mutation
Primary Sites
Adrenal Gland
Anus
Ampulla (Pancreaticobiliary Duct)
Appendix
Bladder
Blood
Bone
Bone Marrow
Brain
Breast
Spinal Cord
Cervix
Chest Wall
Colon
Endometrium
Esophagus
Eye
Fallopian Tube
Fibroadipose Tissue
Gall Bladder
Kidney
Larynx
Liver
Lung
Lymph Node
Nasal Cavity
Oral Cavity
Ovary
Pancreas
Parathyroid
Penis
Peripheral Nervous System
Peritoneum
Pharynx
Pituitary
Placenta
Pleura
Prostate
Retroperitoneum
Salivary Gland
Seminal Vesicle
Skeletal Muscle
Skin
Small Intestine
Soft Tissue
Spleen
Stomach
Testis
Thymus
Thyroid
Tonsil
Unknown
Ureter
Uterus
Vagina
Rectum
Cartilage
Blood Vessel
Buccal Swab
Heart
Trachea
Salivary Duct
Spermatic Cord
Vulva
Brain, Infratentorial
Brain, Supratentorial
Gastroesophageal Junction
Sellar
Suprasellar
Tumor Types
Acinar Cell Carcinoma
Acinic Cell Carcinoma
Acute Myeloid Leukemia
Adenocarcinoma
Adenoid Cystic Carcinoma
Adenosarcoma
Ameloblastic Tumor
Anaplastic Large Cell Lymphoma
Angioimmunoblastic T-Cell Lymphoma
Angiomatoid Fibrous Histiocytoma
Angiomatosis
Angiomyolipoma
Angiosarcoma
Astrocytoma, Anaplastic
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Basal Cell Carcinoma
Burkitt Lymphoma
Carcinoid Tumor
Carcinoma
Carcinosarcoma
Cholangiocarcinoma
Chondrosarcoma
Chordoma
Choriocarcinoma
Chromophobe Renal Cell Carcinoma
Chronic Lymphocytic Leukemia
Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Classical Hodgkin Lymphoma
Clear Cell Carcinoma
Clear Cell Renal Cell Carcinoma
Craniopharyngioma
Dermatofibrosarcoma
Desmoplastic Small Round Cell Tumor
Diffuse Large B Cell Lymphoma
Ductal Carcinoma
Ependymoma
Essential Thrombocythemia
Ewing Sarcoma
Fibromatosis
Follicular Carcinoma
Follicular Lymphoma
Gastrointestinal Stromal Tumor
Germ Cell Tumor
Giant Cell Tumor
Glioblastoma
Glomus Tumor
Granular Cell Tumor
Hairy Cell Leukemia
Hemangioendothelioma
Hepatocellular Carcinoma
Histiocytic and Dendritic Cell Neoplasms
Invasive Ductal Carcinoma
Kaposi Sarcoma
Langerhans Cell Histiocytosis
Leiomyoma
Leiomyosarcoma
Lipoma
Liposarcoma
Lobular Carcinoma
Lymphoplasmacytic Lymphoma
Malignant Mullerian Mixed Tumor
Mantle Cell Lymphoma
Marginal Zone B Cell Lymphoma
Mast Cell Neoplasm
MDS with Ring Sideroblasts
Medullary Carcinoma
Medulloblastoma
Melanoma
Meningioma
Merkel Cell Carcinoma
Mesothelioma
Mucinous Adenocarcinoma
Mucinous Tumors of Ovary
Mucoepidermoid Carcinoma
Myelodysplastic Syndrome
Myeloproliferative Neoplasm
Myxofibrosarcoma
Nasopharyngeal Carcinoma
Neuroblastoma
Neuroendocrine Carcinoma
Neuroendocrine Neoplasm
NK Cell Lymphoproliferative Disorder
NLPHL
Non-Small Cell Lung Carcinoma
Oligodendroglioma
Osteosarcoma
Papillary Carcinoma
Papillary Renal Cell Carcinoma
Peripheral T Cell Lymphoma
Pheochromocytoma
Plasma Cell Disorder
Polycythemia Vera
Post-Transplant Lymphoproliferative Disorder
Primary Myelofibrosis
Primitive Neuroectodermal Tumor
Renal Cell Carcinoma
Reninoma
Retinoblastoma
Rhabdomyosarcoma
Sarcoma
Schwannoma
Serous Carcinoma
Sex Cord Stromal Tumor
Small Cell Carcinoma
Solid Pseudopapillary Tumor of Pancreas
Spindle Cell Neoplasm
Squamous Cell Carcinoma
T Cell Lymphoproliferative Disorder
T Lymphoblastic Leukemia/Lymphoma
T-Cell LGL Leukemia
Thymic Carcinoma
Thymoma
Urothelial Carcinoma
Tumors of Peripheral Nerves
Unknown
Wilms Tumor
Ependymoma, Anaplastic
Astrocytoma, Pilocytic
Ganglioglioma
Neuroepithelial Neoplasm, NOS
Pleomorphic Carcinoma
Solitary Fibrous Tumor
Neuroepithelial neoplasm, high grade
Leukocytosis
Thrombocytosis
Monocytosis
Cytopenia
Other Acute Leukemia
Astrocytoma, NOS
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Astrocytoma, Diffusely Infiltrating
Diffuse Midline Glioma
Infiltrating Glioma, NOS
Intraductal Papillary Mucinous Neoplasm (IPMN)
Leukopenia
Lymphadenopathy
Lymphocytosis, Symptomatic
Monoclonal Gammopathy
Mucinous or Serous Cystic Neoplasms of Pancreas
Mycosis Fungoides, Unspecified Site
Oligodendroglioma, Anaplastic
Pleomorphic Xanthoastrocytoma
Rash and Other Nonspecific Skin Eruption
Thrombocytopenia, Unspecified
Interpretation

This gene is a known cancer gene. ARID1A/BAF250A subunit of the SWI/SNF (BAF) chromatin remodeling complex has emerged as recurrently mutated in a broad array of tumor types and a potential tumor suppressor. There is evidence indicating that ARID1A-mutated cancers may be subjected to therapeutic intervention.

Last updated: 2018-03-06 21:16:43 UTC
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Tier 2
TP53
Variants
TP53 any mutation
Primary Sites
Adrenal Gland
Anus
Ampulla (Pancreaticobiliary Duct)
Appendix
Bladder
Blood
Bone
Bone Marrow
Brain
Breast
Spinal Cord
Cervix
Chest Wall
Endometrium
Esophagus
Eye
Fallopian Tube
Fibroadipose Tissue
Gall Bladder
Kidney
Larynx
Liver
Lung
Lymph Node
Nasal Cavity
Oral Cavity
Ovary
Pancreas
Parathyroid
Penis
Peripheral Nervous System
Peritoneum
Pharynx
Pituitary
Placenta
Pleura
Prostate
Retroperitoneum
Salivary Gland
Seminal Vesicle
Skeletal Muscle
Skin
Small Intestine
Soft Tissue
Spleen
Stomach
Testis
Thymus
Thyroid
Tonsil
Unknown
Ureter
Uterus
Vagina
Rectum
Cartilage
Blood Vessel
Buccal Swab
Heart
Trachea
Salivary Duct
Spermatic Cord
Vulva
Brain, Infratentorial
Brain, Supratentorial
Gastroesophageal Junction
Sellar
Suprasellar
Colon
Tumor Types
Acinar Cell Carcinoma
Acinic Cell Carcinoma
Adenocarcinoma
Adenoid Cystic Carcinoma
Adenosarcoma
Ameloblastic Tumor
Anaplastic Large Cell Lymphoma
Angioimmunoblastic T-Cell Lymphoma
Angiomatoid Fibrous Histiocytoma
Angiomatosis
Angiomyolipoma
Angiosarcoma
Astrocytoma, Anaplastic
Basal Cell Carcinoma
Burkitt Lymphoma
Carcinoid Tumor
Carcinoma
Carcinosarcoma
Cholangiocarcinoma
Chondrosarcoma
Chordoma
Choriocarcinoma
Chromophobe Renal Cell Carcinoma
Chronic Lymphocytic Leukemia
Classical Hodgkin Lymphoma
Clear Cell Carcinoma
Clear Cell Renal Cell Carcinoma
Craniopharyngioma
Dermatofibrosarcoma
Desmoplastic Small Round Cell Tumor
Diffuse Large B Cell Lymphoma
Ductal Carcinoma
Ependymoma
Ewing Sarcoma
Fibromatosis
Follicular Carcinoma
Follicular Lymphoma
Gastrointestinal Stromal Tumor
Germ Cell Tumor
Giant Cell Tumor
Glioblastoma
Glomus Tumor
Granular Cell Tumor
Hairy Cell Leukemia
Hemangioendothelioma
Hepatocellular Carcinoma
Invasive Ductal Carcinoma
Kaposi Sarcoma
Leiomyoma
Leiomyosarcoma
Lipoma
Liposarcoma
Lobular Carcinoma
Lymphoplasmacytic Lymphoma
Malignant Mullerian Mixed Tumor
Mantle Cell Lymphoma
Marginal Zone B Cell Lymphoma
Medullary Carcinoma
Medulloblastoma
Melanoma
Meningioma
Merkel Cell Carcinoma
Mesothelioma
Mucinous Adenocarcinoma
Mucinous Tumors of Ovary
Mucoepidermoid Carcinoma
Myxofibrosarcoma
Nasopharyngeal Carcinoma
Neuroblastoma
Neuroendocrine Carcinoma
Neuroendocrine Neoplasm
NK Cell Lymphoproliferative Disorder
NLPHL
Non-Small Cell Lung Carcinoma
Oligodendroglioma
Osteosarcoma
Papillary Carcinoma
Papillary Renal Cell Carcinoma
Peripheral T Cell Lymphoma
Pheochromocytoma
Plasma Cell Disorder
Post-Transplant Lymphoproliferative Disorder
Primitive Neuroectodermal Tumor
Renal Cell Carcinoma
Reninoma
Retinoblastoma
Rhabdomyosarcoma
Sarcoma
Schwannoma
Serous Carcinoma
Sex Cord Stromal Tumor
Small Cell Carcinoma
Solid Pseudopapillary Tumor of Pancreas
Spindle Cell Neoplasm
Squamous Cell Carcinoma
T Cell Lymphoproliferative Disorder
T-Cell LGL Leukemia
Thymic Carcinoma
Thymoma
Urothelial Carcinoma
Tumors of Peripheral Nerves
Unknown
Wilms Tumor
Ependymoma, Anaplastic
Astrocytoma, Pilocytic
Ganglioglioma
Neuroepithelial Neoplasm, NOS
Pleomorphic Carcinoma
Solitary Fibrous Tumor
Neuroepithelial neoplasm, high grade
Astrocytoma, NOS
Astrocytoma, Diffusely Infiltrating
Diffuse Midline Glioma
Infiltrating Glioma, NOS
Intraductal Papillary Mucinous Neoplasm (IPMN)
Lymphadenopathy
Lymphocytosis, Symptomatic
Monoclonal Gammopathy
Mucinous or Serous Cystic Neoplasms of Pancreas
Mycosis Fungoides, Unspecified Site
Oligodendroglioma, Anaplastic
Pleomorphic Xanthoastrocytoma
Rash and Other Nonspecific Skin Eruption
Interpretation

Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.

Last updated: 2018-11-12 20:38:55 UTC
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Tier 1
BRAF
Variants
BRAF K601E
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Interpretation

RAS/RAF path mutation has been identified in 5-9 % of CLL patients. The K601E mutation results in an amino acid substitution at position 601 in BRAF, occurs within the highly conserved motif of the kinase domain. Most mutant BRAF proteins, such as K601E, have increased kinase activity and are transforming in vitro. Preclinical studies suggest that downstream signaling induced by the K601E mutant may be blocked by the BRAF inhibitor, vemurafenib.

Last updated: 2018-04-18 14:42:13 UTC
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Tier 2
IDH1
Variants
IDH1 any mutation
Primary Sites
Blood
Tumor Types
Chronic Myeloid Leukemia
Interpretation

This is a cancer genes

Last updated: 2018-10-25 15:12:42 UTC
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Tier 2
ASXL1
Variants
ASXL1 any missense
ASXL1 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Essential Thrombocythemia
MDS with Ring Sideroblasts
Myelodysplastic Syndrome
Myeloproliferative Neoplasm
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Monocytosis
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
Mast Cell Neoplasm
Interpretation

ASXL1 regulates epigenetic functions including histone and chromatin modifications. ASXL1 mutations have been reported in 40-50% of chronic myelomonocytic leukemia(CMML), 20% of myelodsyplastic syndromes, 20-35% of primary myelofibrosis, 15% of systemic mastocytosis, 30% of patients with secondary acute myeloid leukemia and 5-10% of primary acute myeloid leukemia. ASXL1 mutations have also been described in CHIP and CCUS. In CMML, missense mutations of ASXL1 appear to be less common (less than 10% of cases). Nonsense and frameshift mutations (but apparently not missense mutations) of ASXL1 have been reported to carry an adverse prognostic impact in cases of chronic myelomonocytic leukemia. In addition, ASXL1 mutations have been associated with adverse outcome in myelodysplasia, primary myelofibrosis and systemic mastocytosis. Among cases of AML, ASXL1 mutations appear to be associated with adverse prognosis in some subtypes of AML according to some, but not all, studies. ASXL1 mutations may coexist with mutations of splicing factor components, TET2 and RUNX1; for example, co-existence of U2AF1 and ASXL1 mutations have been described in CMML and primary myelofibrosis; While in AML, ASXL1 mutations have been reported to be exclusive of NPM1 mutations according to some studies.

Last updated: 2018-11-12 20:40:39 UTC
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Tier 2
BCOR
Variants
BCOR any mutation
BCOR any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
MDS with Ring Sideroblasts
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Thrombocytopenia, Unspecified
Other Acute Leukemia
Leukopenia
Essential Thrombocythemia
Primary Myelofibrosis
Monocytosis
Polycythemia
Thrombocytosis
Leukocytosis
Interpretation

BCOR is a ubiquitously expressed nuclear protein that is a transcriptional corepressor important in several cellular processes. Somatic, nonsense and frameshift mutations throughout BCOR have been reported in approximately 7% of chronic myelomonocytic leukemia, 4% of patients with myelodysplastic syndrome(MDS), 4% of primary acute myeloid leukemia and appear to be associated with RUNX1 and DNMT3A mutations . Also, BCOR mutations may be enriched among cases of AML lacking NPM1, CEBPA, FLT3-ITD, IDH1 and MLL-PTD alterations. BCOR mutations tend to be subclonal in MDS, clonal in primary AML and are believed to have significance as loss of function mutations in a tumor suppressor gene that affect the functional allele in male and female patients. The presence of BCOR mutation in patients with MDS and AML has been associated with poorer overall survival according to some studies.

Last updated: 2019-01-02 22:50:45 UTC
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Tier 1
BRAF
Variants
BRAF V600D
BRAF V600E
BRAF V600K
BRAF V600R
BRAF codon(s) 600 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Hairy Cell Leukemia
Interpretation

B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Mutations of B-RAF have been described in up to 100% of Hairy cell leukemia, 40-70% of Langerhans cell histiocytosis, approximately 50% of Erdheim-Chester disease, approximately 5% of diffuse large B cell lymphoma and plasma cell neoplasms and less than 5% of chronic lymphocytic leukemia. Some types of Hairy Cell Leukemia (eg, Hairy Cell Leukemia-Variant, Hairy Cell Leukemia with IgHV4-34 rearrangement) are negative for BRAF V600E mutation and may have MAP2K1 mutations. While some reports have found that 10-20% of cases of acute leukemias (ALL or AML) may have BRAF mutations, other reports have described no BRAF in those diseases or in myeloid diseases such as MDS or CML. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). B-Raf inhibitors(eg, Vemurafenib) have been FDA approved for therapy for various tumor types and have been used in Hairy Cell Leukemia in some clinical settings, including in combination with other therapy.

Last updated: 2018-11-12 20:40:47 UTC
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Tier 3
BRINP3
Variants
BRINP3 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Cytopenia
Leukocytosis
Leukopenia
Monocytosis
Other Acute Leukemia
Thrombocytopenia, Unspecified
Interpretation

BRINP3(FAM5C) has been reported to be mutated in <10% of some types of AML.

Last updated: 2018-11-12 20:40:58 UTC
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Tier 1
TP53
Variants
TP53 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

TP53 encodes p53, a tumor suppressor protein that consists of transactivation domain, proline-rich domain, DNA-binding domain, oligomerization domain, and regulatory domain. p53 responds to diverse cellular stresses to maintain genomic stability and to induce cell cycle arrest, apoptosis, DNA repair and metabolic changes. TP53 mutations represent an important mechanism of resistance to DNA-damaging chemotherapeutic agents. Somatic TP53 mutations are found in a variety of cancers with various frequencies depending on cancer type; overall, TP53 is mutated in over one-half of human cancers. Missense mutations were the most frequent (~70-80%), followed by frameshift and nonsense mutations. Most TP53 mutations are clustered in the DNA-binding domain encompassing exons 5 and 8. These mutations either directly disrupt the DNA-binding domain of TP53 or cause conformational changes of the TP53 protein, thus leading to severely impaired TP53 function. Overall in myeloid malignancies, TP53 mutations are found in 5% to 15% of de novo MDS and AML but 20% of myelodysplastic syndrome with isolated del(5q) and ~50% of MDS/AML with complex karyotype. TP53 mutations are also more frequent in therapy-associated myeloid neoplasm (21-38%) compared to de novo MDS and AML. TP53 mutations are also found in 8% of blastic plasmacytoid dendritic cell neoplasm, and less than 5% in myeloproliferative neoplasms (ET, PV and PMF) and chronic myelomonocytic leukemia. TP53 mutations are independently associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes) and is a poor risk factor in AML (NCCN Guildelines for AML). TP53 mutations are also associated with resistance to lenalidomide or relapse during lenalidomide treatment. TP53 mutations are independently associated with unfavorable outcomes and shorter survival after hematopoietic stem cell transplantation in patients with myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia, but an increased response to decitabine in patients with myelodysplastic syndrome or acute myeloid leukemia.

Last updated: 2020-07-24 14:50:01 UTC
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Tier 2
SUZ12
Variants
SUZ12 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Acute Myeloid Leukemia
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SUZ12 is one of the core components of the polycomb repressive complex 2 (PRC2), which is a highly conserved histone H3 lysine 27 methyltransferase that regulates the expression of developmental genes. SUZ12 mutations are present infrequently (<2%) in myeloproliferative neoplasms (MPN) and myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN). The mutations are missense and tend to be located at the highly conserved VEFS domain, is required for the interaction between SUZ12 and EZH2. These mutations reduced PRC2 histone methyltransferase activity in vitro. Inactivating mutations of the catalytic component of PRC2, EZH2, can also be seen in myeloid neoplasms. Mice with loss of function mutations in PRC2 components display enhanced activity of their hematopoietic stem cell/progenitor population and loss of SUZ12 function in particular enhances hematopoietic stem cell activity.

Last updated: 2018-11-12 20:41:10 UTC
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Tier 2
NFE2
Variants
NFE2 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Acute Myeloid Leukemia
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

NFE2 codes for a subunit of the NF-E2 (nuclear factor, erythroid 2) complex essential for regulating erythroid and megakaryocytic maturation and differentiation. This submit regulates a number of erythroid and megakaryocytic promoters. Rare insertion and deletion mutations leading to premature translation termination in NFE2 were found in 2% of myeloproliferative neoplasms (MPN). NFE2 mutatoins appear to be enriched in isolated myeloid sarcomas (MS). Of the six investigated cases of MS without previous or concurrent AML in the bone marrow, 4 (67%) harbored mutations in NFE2, 3 of which were missense and 1 of which was frameshift. In addition, NFE2 is overexpressed in the majority of patients with MPNs. In murine models, over-expression of NFE2 caused an MPN phenotype with spontaneous leukemic transformation, supporting a direct role of NFE2 in the pathogenesis of MPN. Over-expression of NFE2 in MPN may be attributed to histone H3Y41 phosphorylation by V617F-mutated JAK2 and transcriptional activation of NFE2 by JMJD1C in a positive feedback loop.

Last updated: 2018-11-12 20:41:16 UTC
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Tier 2
ETV6
Variants
ETV6 any mutation
ETV6 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Other Acute Leukemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Interpretation

ETV6 is a transcriptional repressor and is frequently involved in translocations with a variety of different partner genes in a range of hematologic malignancies. Mutations of ETV6 have been described in <5% of myelodysplastic syndromes and appear to be more frequent (ie, 10-24% of cases) in early T cell precursor type (immature) acute lymphoblastic leukemias. In addition, ETV6 mutations have been reported in association with hereditary myeloid disorders. These mutations occur throughout the gene and typically correspond to loss of function mutations (nonsense and frameshift mutations). ETV6 mutations may occasionally occur in a homozygous/hemizygous manner and tend to occur with mutations in NOTCH1 in lymphoblastic leukemia. In MDS, ETV6 mutations have been independently associated with an adverse prognosis. If clinical findings and family history are concerning for the presence of an inherited disorder, then genetic counseling may be helpful, if clinically indicated.

Last updated: 2018-11-12 20:41:20 UTC
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Tier 2
EZH2
Variants
EZH2 any mutation
EZH2 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Other Acute Leukemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
T Lymphoblastic Leukemia/Lymphoma
Interpretation

EZH2 encodes the histone methyltransferase subunit of the polycomb repressive complex 2 (PRC2) that leads to H3K27me3 and promotes transcriptional repression. EZH2 loss of function mutations (nonsense, frameshift mutations, occasionally occurring as homozygous mutations) may occur throughout the gene and have been reported in less than 10% of patients with acute myeloid leukemia, myelodysplasia, atypical chronic myelogenous leukemia, primary myelofibrosis and up to 12% of patients with chronic myelomonocytic leukemia. EZH2 loss of function mutations may be more frequent (15%) among cases of T cell acute lymphoblastic leukemia. EZH2 mutations have been independently associated with adverse prognosis in MDS and MDS/MPN. Therapeutic targeting of EZH2 is currently under study for some types of lymphoma and solid tumors.

Last updated: 2018-11-12 20:41:22 UTC
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Tier 2
HNRNPK
Variants
HNRNPK any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Cytopenia
Leukocytosis
Leukopenia
Monocytosis
Other Acute Leukemia
Thrombocytopenia, Unspecified
Interpretation

HNRNPK maps to the 9q21.32 locus, and deletion of this locus, along with an associated reduction in HNRNPK expression, has been reported in patients with acute myeloid leukemia (AML). HNRNPK mutations have also been reported in AML.

Last updated: 2018-11-12 20:41:31 UTC
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Tier 2
KDM6A
Variants
KDM6A any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Other Acute Leukemia
Interpretation

KDM6A is a histone demethylase. In a recent study, KDM6A was noted to be a recurrently altered gene in a subset of relapsed AML cases and may represent a mechanism of cytarabine resistance. These alterations include partial gene deletions and mutations that lead to decreased KDM6A expression/function.

Last updated: 2018-11-12 20:41:33 UTC
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Tier 1
MPL
Variants
MPL Y591D
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
Interpretation

This MPL variant has been previously reported in the COSMIC database (COSM28997) and has been reported to be an activating mutation (PubMed ID: 26423830, Milosevic Feenstra et al., Blood 2016).

Last updated: 2019-05-31 15:44:29 UTC
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Tier 1
MPL
Variants
MPL S505N
Primary Sites
Blood
Bone Marrow
Tumor Types
Essential Thrombocythemia
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Primary Myelofibrosis
Interpretation

The MPL p.S505N mutation is a recurrent mutation in some myeloproliferative and/or myeloproliferative/myelodysplastic disorders. It has also been reported in familial essential thrombocythemia. Biochemical studies of this variant have shown that it leads to moderate activation of downstream pathways including MEK-1/-2 and STAT5, which represent potentially targetable pathways.

Last updated: 2019-07-04 02:57:03 UTC
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Generic Interpretations

TierInterpretationGeneVariants
2This gene is a known cancer gene.ABI1
ABI1 copy number gain
ABI1 copy number loss
2This gene is a known cancer gene.ABL1
ABL1 copy number gain
ABL1 copy number loss
2This gene is a known cancer gene.ABL2
ABL2 copy number gain
ABL2 copy number loss
2This gene is a known cancer gene.ACKR3
ACKR3 copy number gain
ACKR3 copy number loss
2This gene is a known cancer gene.ACSL3
ACSL3 copy number gain
ACSL3 copy number loss
2This gene is a known cancer gene.ACSL6
ACSL6 copy number gain
ACSL6 copy number loss
2This gene is a known cancer gene.ACVR1
ACVR1 copy number gain
ACVR1 copy number loss
2This gene is a known cancer gene.AFF1
AFF1 copy number gain
AFF1 copy number loss
2This gene is a known cancer gene.AFF3
AFF3 copy number gain
AFF3 copy number loss
2This gene is a known cancer gene.AFF4
AFF4 copy number gain
AFF4 copy number loss
2This gene is a known cancer gene.AKAP9
AKAP9 copy number gain
AKAP9 copy number loss
2This gene is a known cancer gene.AKT1
AKT1 copy number gain
AKT1 copy number loss
2This gene is a known cancer gene.AKT2
AKT2 copy number gain
AKT2 copy number loss
2This gene is a known cancer gene.ALDH2
ALDH2 copy number gain
ALDH2 copy number loss
2This gene is a known cancer gene.ALK
ALK copy number gain
ALK copy number loss
2This gene is a known cancer gene.AMER1
AMER1 copy number gain
AMER1 copy number loss
2This gene is a known cancer gene.APC
APC copy number gain
APC copy number loss
2This gene is a known cancer gene.AR
AR copy number gain
AR copy number loss
2This gene is a known cancer gene.ARHGAP26
ARHGAP26 copy number gain
ARHGAP26 copy number loss
2This gene is a known cancer gene.ARHGEF12
ARHGEF12 copy number gain
ARHGEF12 copy number loss
2This gene is a known cancer gene.ARID1A
ARID1A copy number gain
ARID1A copy number loss
2This gene is a known cancer gene.ARID1B
ARID1B copy number gain
ARID1B copy number loss
2This gene is a known cancer gene.ARID2
ARID2 copy number gain
ARID2 copy number loss
2This gene is a known cancer gene.ARNT
ARNT copy number gain
ARNT copy number loss
2This gene is a known cancer gene.ASPSCR1
ASPSCR1 copy number gain
ASPSCR1 copy number loss
2This gene is a known cancer gene.ASXL1
ASXL1 copy number gain
ASXL1 copy number loss
2This gene is a known cancer gene.ATF1
ATF1 copy number gain
ATF1 copy number loss
2This gene is a known cancer gene.ATIC
ATIC copy number gain
ATIC copy number loss
2This gene is a known cancer gene.ATM
ATM copy number gain
ATM copy number loss
2This gene is a known cancer gene.ATP1A1
ATP1A1 copy number gain
ATP1A1 copy number loss
2This gene is a known cancer gene.ATP2B3
ATP2B3 copy number gain
ATP2B3 copy number loss
2This gene is a known cancer gene.ATR
ATR copy number gain
ATR copy number loss
2This gene is a known cancer gene.ATRX
ATRX copy number gain
ATRX copy number loss
2This gene is a known cancer gene.AXIN1
AXIN1 copy number gain
AXIN1 copy number loss
2This gene is a known cancer gene.AXIN2
AXIN2 copy number gain
AXIN2 copy number loss
2This gene is a known cancer gene.BAP1
BAP1 copy number gain
BAP1 copy number loss
2This gene is a known cancer gene.BCL10
BCL10 copy number gain
BCL10 copy number loss
2This gene is a known cancer gene.BCL11A
BCL11A copy number gain
BCL11A copy number loss
2This gene is a known cancer gene.BCL11B
BCL11B copy number gain
BCL11B copy number loss
2This gene is a known cancer gene.BCL2
BCL2 copy number gain
BCL2 copy number loss
2This gene is a known cancer gene.BCL3
BCL3 copy number gain
BCL3 copy number loss
2This gene is a known cancer gene.BCL6
BCL6 copy number gain
BCL6 copy number loss
2This gene is a known cancer gene.BCL7A
BCL7A copy number gain
BCL7A copy number loss
2This gene is a known cancer gene.BCL9
BCL9 copy number gain
BCL9 copy number loss
2This gene is a known cancer gene.BCOR
BCOR copy number gain
BCOR copy number loss
2This gene is a known cancer gene.BCR
BCR copy number gain
BCR copy number loss
2This gene is a known cancer gene.BIRC3
BIRC3 copy number gain
BIRC3 copy number loss
2This gene is a known cancer gene.BLM
BLM copy number gain
BLM copy number loss
2This gene is a known cancer gene.BMPR1A
BMPR1A copy number gain
BMPR1A copy number loss
2This gene is a known cancer gene.BRAF
BRAF copy number gain
BRAF copy number loss
2This gene is a known cancer gene.BRCA1
BRCA1 copy number gain
BRCA1 copy number loss
2This gene is a known cancer gene.BRCA2
BRCA2 copy number gain
BRCA2 copy number loss
2This gene is a known cancer gene.BRD3
BRD3 copy number gain
BRD3 copy number loss
2This gene is a known cancer gene.BRD4
BRD4 copy number gain
BRD4 copy number loss
2This gene is a known cancer gene.BRIP1
BRIP1 copy number gain
BRIP1 copy number loss
2This gene is a known cancer gene.BTG1
BTG1 copy number gain
BTG1 copy number loss
2This gene is a known cancer gene.BUB1B
BUB1B copy number gain
BUB1B copy number loss
2This gene is a known cancer gene.C15ORF65
C15ORF65 copy number gain
C15ORF65 copy number loss
2This gene is a known cancer gene.C2ORF44
C2ORF44 copy number gain
C2ORF44 copy number loss
2This gene is a known cancer gene.CACNA1D
CACNA1D copy number gain
CACNA1D copy number loss
2This gene is a known cancer gene.CALR
CALR copy number gain
CALR copy number loss
2This gene is a known cancer gene.CAMTA1
CAMTA1 copy number gain
CAMTA1 copy number loss
2This gene is a known cancer gene.CANT1
CANT1 copy number gain
CANT1 copy number loss
2This gene is a known cancer gene.CARD11
CARD11 copy number gain
CARD11 copy number loss
2This gene is a known cancer gene.CARS
CARS copy number gain
CARS copy number loss
2This gene is a known cancer gene.CASC5
CASC5 copy number gain
CASC5 copy number loss
2This gene is a known cancer gene.CASP8
CASP8 copy number gain
CASP8 copy number loss
2This gene is a known cancer gene.CBFA2T3
CBFA2T3 copy number gain
CBFA2T3 copy number loss
2This gene is a known cancer gene.CBFB
CBFB copy number gain
CBFB copy number loss
2This gene is a known cancer gene.CBL
CBL copy number gain
CBL copy number loss
2This gene is a known cancer gene.CBLB
CBLB copy number gain
CBLB copy number loss
2This gene is a known cancer gene.CBLC
CBLC copy number gain
CBLC copy number loss
2This gene is a known cancer gene.CCDC6
CCDC6 copy number gain
CCDC6 copy number loss
2This gene is a known cancer gene.CCNB1IP1
CCNB1IP1 copy number gain
CCNB1IP1 copy number loss
2This gene is a known cancer gene.CCND1
CCND1 copy number gain
CCND1 copy number loss
2This gene is a known cancer gene.CCND2
CCND2 copy number gain
CCND2 copy number loss
2This gene is a known cancer gene.CCND3
CCND3 copy number gain
CCND3 copy number loss
2This gene is a known cancer gene.CCNE1
CCNE1 copy number gain
CCNE1 copy number loss
2This gene is a known cancer gene.CD274
CD274 copy number gain
CD274 copy number loss
2This gene is a known cancer gene.CD74
CD74 copy number gain
CD74 copy number loss
2This gene is a known cancer gene.CD79A
CD79A copy number gain
CD79A copy number loss
2This gene is a known cancer gene.CD79B
CD79B copy number gain
CD79B copy number loss
2This gene is a known cancer gene.CDC73
CDC73 copy number gain
CDC73 copy number loss
2This gene is a known cancer gene.CDH1
CDH1 copy number gain
CDH1 copy number loss
2This gene is a known cancer gene.CDH11
CDH11 copy number gain
CDH11 copy number loss
2This gene is a known cancer gene.CDK12
CDK12 copy number gain
CDK12 copy number loss
2This gene is a known cancer gene.CDK4
CDK4 copy number gain
CDK4 copy number loss
2This gene is a known cancer gene.CDK6
CDK6 copy number gain
CDK6 copy number loss
2This gene is a known cancer gene.CDKN1B
CDKN1B copy number gain
CDKN1B copy number loss
2This gene is a known cancer gene.CDKN2A
CDKN2A copy number gain
CDKN2A copy number loss
2This gene is a known cancer gene.CDKN2B
CDKN2B copy number gain
CDKN2B copy number loss
2This gene is a known cancer gene.CDKN2C
CDKN2C copy number gain
CDKN2C copy number loss
2This gene is a known cancer gene.CDX2
CDX2 copy number gain
CDX2 copy number loss
2This gene is a known cancer gene.CEBPA
CEBPA copy number gain
CEBPA copy number loss
2This gene is a known cancer gene.CEP89
CEP89 copy number gain
CEP89 copy number loss
2This gene is a known cancer gene.CHCHD7
CHCHD7 copy number gain
CHCHD7 copy number loss
2This gene is a known cancer gene.CHEK2
CHEK2 copy number gain
CHEK2 copy number loss
2This gene is a known cancer gene.CHIC2
CHIC2 copy number gain
CHIC2 copy number loss
2This gene is a known cancer gene.CHN1
CHN1 copy number gain
CHN1 copy number loss
2This gene is a known cancer gene.CIC
CIC copy number gain
CIC copy number loss
2This gene is a known cancer gene.CIITA
CIITA copy number gain
CIITA copy number loss
2This gene is a known cancer gene.CLIP1
CLIP1 copy number gain
CLIP1 copy number loss
2This gene is a known cancer gene.CLP1
CLP1 copy number gain
CLP1 copy number loss
2This gene is a known cancer gene.CLTC
CLTC copy number gain
CLTC copy number loss
2This gene is a known cancer gene.CLTCL1
CLTCL1 copy number gain
CLTCL1 copy number loss
2This gene is a known cancer gene.CNBP
CNBP copy number gain
CNBP copy number loss
2This gene is a known cancer gene.CNOT3
CNOT3 copy number gain
CNOT3 copy number loss
2This gene is a known cancer gene.CNTRL
CNTRL copy number gain
CNTRL copy number loss
2This gene is a known cancer gene.COL1A1
COL1A1 copy number gain
COL1A1 copy number loss
2This gene is a known cancer gene.COL2A1
COL2A1 copy number gain
COL2A1 copy number loss
2This gene is a known cancer gene.COX6C
COX6C copy number gain
COX6C copy number loss
2This gene is a known cancer gene.CREB1
CREB1 copy number gain
CREB1 copy number loss
2This gene is a known cancer gene.CREB3L1
CREB3L1 copy number gain
CREB3L1 copy number loss
2This gene is a known cancer gene.CREB3L2
CREB3L2 copy number gain
CREB3L2 copy number loss
2This gene is a known cancer gene.CREBBP
CREBBP copy number gain
CREBBP copy number loss
2This gene is a known cancer gene.CRLF2
CRLF2 copy number gain
CRLF2 copy number loss
2This gene is a known cancer gene.CRTC1
CRTC1 copy number gain
CRTC1 copy number loss
2This gene is a known cancer gene.CRTC3
CRTC3 copy number gain
CRTC3 copy number loss
2This gene is a known cancer gene.CSF1R
CSF1R copy number gain
CSF1R copy number loss
2This gene is a known cancer gene.CSF3R
CSF3R copy number gain
CSF3R copy number loss
2This gene is a known cancer gene.CTNNB1
CTNNB1 copy number gain
CTNNB1 copy number loss
2This gene is a known cancer gene.CUX1
CUX1 copy number gain
CUX1 copy number loss
2This gene is a known cancer gene.CYLD
CYLD copy number gain
CYLD copy number loss
2This gene is a known cancer gene.DAXX
DAXX copy number gain
DAXX copy number loss
2This gene is a known cancer gene.DCTN1
DCTN1 copy number gain
DCTN1 copy number loss
2This gene is a known cancer gene.DDB2
DDB2 copy number gain
DDB2 copy number loss
2This gene is a known cancer gene.DDIT3
DDIT3 copy number gain
DDIT3 copy number loss
2This gene is a known cancer gene.DDX10
DDX10 copy number gain
DDX10 copy number loss
2This gene is a known cancer gene.DDX5
DDX5 copy number gain
DDX5 copy number loss
2This gene is a known cancer gene.DDX6
DDX6 copy number gain
DDX6 copy number loss
2This gene is a known cancer gene.DEK
DEK copy number gain
DEK copy number loss
2This gene is a known cancer gene.DICER1
DICER1 copy number gain
DICER1 copy number loss
2This gene is a known cancer gene.DNM2
DNM2 copy number gain
DNM2 copy number loss
2This gene is a known cancer gene.DNMT3A
DNMT3A copy number gain
DNMT3A copy number loss
2This gene is a known cancer gene.DUX4
DUX4 copy number gain
DUX4 copy number loss
2This gene is a known cancer gene.EBF1
EBF1 copy number gain
EBF1 copy number loss
2This gene is a known cancer gene.ECT2L
ECT2L copy number gain
ECT2L copy number loss
2This gene is a known cancer gene.EGFR
EGFR copy number gain
EGFR copy number loss
2This gene is a known cancer gene.EIF3E
EIF3E copy number gain
EIF3E copy number loss
2This gene is a known cancer gene.EIF4A2
EIF4A2 copy number gain
EIF4A2 copy number loss
2This gene is a known cancer gene.ELF4
ELF4 copy number gain
ELF4 copy number loss
2This gene is a known cancer gene.ELK4
ELK4 copy number gain
ELK4 copy number loss
2This gene is a known cancer gene.ELL
ELL copy number gain
ELL copy number loss
2This gene is a known cancer gene.ELN
ELN copy number gain
ELN copy number loss
2This gene is a known cancer gene.EML4
EML4 copy number gain
EML4 copy number loss
2This gene is a known cancer gene.EPHA3
EPHA3 copy number gain
EPHA3 copy number loss
2This gene is a known cancer gene.EP300
EP300 copy number gain
EP300 copy number loss
2This gene is a known cancer gene.EPS15
EPS15 copy number gain
EPS15 copy number loss
2This gene is a known cancer gene.ERBB2
ERBB2 copy number gain
ERBB2 copy number loss
2This gene is a known cancer gene.ERBB3
ERBB3 copy number gain
ERBB3 copy number loss
2This gene is a known cancer gene.ERC1
ERC1 copy number gain
ERC1 copy number loss
2This gene is a known cancer gene.ERCC2
ERCC2 copy number gain
ERCC2 copy number loss
2This gene is a known cancer gene.ERCC3
ERCC3 copy number gain
ERCC3 copy number loss
2This gene is a known cancer gene.ERCC4
ERCC4 copy number gain
ERCC4 copy number loss
2This gene is a known cancer gene.ERCC5
ERCC5 copy number gain
ERCC5 copy number loss
2This gene is a known cancer gene.ERG
ERG copy number gain
ERG copy number loss
2This gene is a known cancer gene.ESR1
ESR1 copy number gain
ESR1 copy number loss
2This gene is a known cancer gene.ETNK1
ETNK1 copy number gain
ETNK1 copy number loss
2This gene is a known cancer gene.ETV1
ETV1 copy number gain
ETV1 copy number loss
2This gene is a known cancer gene.ETV4
ETV4 copy number gain
ETV4 copy number loss
2This gene is a known cancer gene.ETV5
ETV5 copy number gain
ETV5 copy number loss
2This gene is a known cancer gene.ETV6
ETV6 copy number gain
ETV6 copy number loss
2This gene is a known cancer gene.EWSR1
EWSR1 copy number gain
EWSR1 copy number loss
2This gene is a known cancer gene.EXT1
EXT1 copy number gain
EXT1 copy number loss
2This gene is a known cancer gene.EXT2
EXT2 copy number gain
EXT2 copy number loss
2This gene is a known cancer gene.EZH2
EZH2 copy number gain
EZH2 copy number loss
2This gene is a known cancer gene.EZR
EZR copy number gain
EZR copy number loss
2This gene is a known cancer gene.FAM131B
FAM131B copy number gain
FAM131B copy number loss
2This gene is a known cancer gene.FAM46C
FAM46C copy number gain
FAM46C copy number loss
2This gene is a known cancer gene.FANCA
FANCA copy number gain
FANCA copy number loss
2This gene is a known cancer gene.FANCC
FANCC copy number gain
FANCC copy number loss
2This gene is a known cancer gene.FANCD2
FANCD2 copy number gain
FANCD2 copy number loss
2This gene is a known cancer gene.FANCE
FANCE copy number gain
FANCE copy number loss
2This gene is a known cancer gene.FANCF
FANCF copy number gain
FANCF copy number loss
2This gene is a known cancer gene.FANCG
FANCG copy number gain
FANCG copy number loss
2This gene is a known cancer gene.FAS
FAS copy number gain
FAS copy number loss
2This gene is a known cancer gene.FBXO11
FBXO11 copy number gain
FBXO11 copy number loss
2This gene is a known cancer gene.FBXW7
FBXW7 copy number gain
FBXW7 copy number loss
2This gene is a known cancer gene.FCGR2B
FCGR2B copy number gain
FCGR2B copy number loss
2This gene is a known cancer gene.FCRL4
FCRL4 copy number gain
FCRL4 copy number loss
2This gene is a known cancer gene.FEV
FEV copy number gain
FEV copy number loss
2This gene is a known cancer gene.FGFR1
FGFR1 copy number gain
FGFR1 copy number loss
2This gene is a known cancer gene.FGFR1OP
FGFR1OP copy number gain
FGFR1OP copy number loss
2This gene is a known cancer gene.FGFR2
FGFR2 copy number gain
FGFR2 copy number loss
2This gene is a known cancer gene.FGFR3
FGFR3 copy number gain
FGFR3 copy number loss
2This gene is a known cancer gene.FGFR4
FGFR4 copy number gain
FGFR4 copy number loss
2This gene is a known cancer gene.FH
FH copy number gain
FH copy number loss
2This gene is a known cancer gene.FHIT
FHIT copy number gain
FHIT copy number loss
2This gene is a known cancer gene.FIP1L1
FIP1L1 copy number gain
FIP1L1 copy number loss
2This gene is a known cancer gene.FLCN
FLCN copy number gain
FLCN copy number loss
2This gene is a known cancer gene.FLI1
FLI1 copy number gain
FLI1 copy number loss
2This gene is a known cancer gene.FLT3
FLT3 copy number gain
FLT3 copy number loss
2This gene is a known cancer gene.FLT4
FLT4 copy number gain
FLT4 copy number loss
2This gene is a known cancer gene.FNBP1
FNBP1 copy number gain
FNBP1 copy number loss
2This gene is a known cancer gene.FOXA1
FOXA1 copy number gain
FOXA1 copy number loss
2This gene is a known cancer gene.FOXL2
FOXL2 copy number gain
FOXL2 copy number loss
2This gene is a known cancer gene.FOXO1
FOXO1 copy number gain
FOXO1 copy number loss
2This gene is a known cancer gene.FOXO3
FOXO3 copy number gain
FOXO3 copy number loss
2This gene is a known cancer gene.FOXO4
FOXO4 copy number gain
FOXO4 copy number loss
2This gene is a known cancer gene.FOXO4
FOXO4 copy number gain
FOXO4 copy number loss
2This gene is a known cancer gene.FOXP1
FOXP1 copy number gain
FOXP1 copy number loss
2This gene is a known cancer gene.FSTL3
FSTL3 copy number gain
FSTL3 copy number loss
2This gene is a known cancer gene.FUBP1
FUBP1 copy number gain
FUBP1 copy number loss
2This gene is a known cancer gene.FUS
FUS copy number gain
FUS copy number loss
2This gene is a known cancer gene.GAS7
GAS7 copy number gain
GAS7 copy number loss
2This gene is a known cancer gene.GATA1
GATA1 copy number gain
GATA1 copy number loss
2This gene is a known cancer gene.GATA2
GATA2 copy number gain
GATA2 copy number loss
2This gene is a known cancer gene.GATA3
GATA3 copy number gain
GATA3 copy number loss
2This gene is a known cancer gene.GMPS
GMPS copy number gain
GMPS copy number loss
2This gene is a known cancer gene.GNA11
GNA11 copy number gain
GNA11 copy number loss
2This gene is a known cancer gene.GNAQ
GNAQ copy number gain
GNAQ copy number loss
2This gene is a known cancer gene.GNAS
GNAS copy number gain
GNAS copy number loss
2This gene is a known cancer gene.GOLGA5
GOLGA5 copy number gain
GOLGA5 copy number loss
2This gene is a known cancer gene.GOPC
GOPC copy number gain
GOPC copy number loss
2This gene is a known cancer gene.GPC3
GPC3 copy number gain
GPC3 copy number loss
2This gene is a known cancer gene.GPHN
GPHN copy number gain
GPHN copy number loss
2This gene is a known cancer gene.GRIN2A
GRIN2A copy number gain
GRIN2A copy number loss
2This gene is a known cancer gene.H3F3A
H3F3A copy number gain
H3F3A copy number loss
2This gene is a known cancer gene.H3F3B
H3F3B copy number gain
H3F3B copy number loss
2This gene is a known cancer gene.HERPUD1
HERPUD1 copy number gain
HERPUD1 copy number loss
2This gene is a known cancer gene.HEY1
HEY1 copy number gain
HEY1 copy number loss
2This gene is a known cancer gene.HIP1
HIP1 copy number gain
HIP1 copy number loss
2This gene is a known cancer gene.HIST1H3B
HIST1H3B copy number gain
HIST1H3B copy number loss
2This gene is a known cancer gene.HIST1H4I
HIST1H4I copy number gain
HIST1H4I copy number loss
2This gene is a known cancer gene.HLA-A
HLA-A copy number gain
HLA-A copy number loss
2This gene is a known cancer gene.HLF
HLF copy number gain
HLF copy number loss
2This gene is a known cancer gene.HMGA1
HMGA1 copy number gain
HMGA1 copy number loss
2This gene is a known cancer gene.HMGA2
HMGA2 copy number gain
HMGA2 copy number loss
2This gene is a known cancer gene.HNF1A
HNF1A copy number gain
HNF1A copy number loss
2This gene is a known cancer gene.HNRNPA2B1
HNRNPA2B1 copy number gain
HNRNPA2B1 copy number loss
2This gene is a known cancer gene.HOOK3
HOOK3 copy number gain
HOOK3 copy number loss
2This gene is a known cancer gene.HOXA11
HOXA11 copy number gain
HOXA11 copy number loss
2This gene is a known cancer gene.HOXA13
HOXA13 copy number gain
HOXA13 copy number loss
2This gene is a known cancer gene.HOXA9
HOXA9 copy number gain
HOXA9 copy number loss
2This gene is a known cancer gene.HOXC11
HOXC11 copy number gain
HOXC11 copy number loss
2This gene is a known cancer gene.HOXC13
HOXC13 copy number gain
HOXC13 copy number loss
2This gene is a known cancer gene.HOXD11
HOXD11 copy number gain
HOXD11 copy number loss
2This gene is a known cancer gene.HOXD13
HOXD13 copy number gain
HOXD13 copy number loss
2This gene is a known cancer gene.HRAS
HRAS copy number gain
HRAS copy number loss
2This gene is a known cancer gene.HSP90AA1
HSP90AA1 copy number gain
HSP90AA1 copy number loss
2This gene is a known cancer gene.HSP90AB1
HSP90AB1 copy number gain
HSP90AB1 copy number loss
2This gene is a known cancer gene.IDH1
IDH1 copy number gain
IDH1 copy number loss
2This gene is a known cancer gene.IDH2
IDH2 copy number gain
IDH2 copy number loss
2This gene is a known cancer gene.IKBKB
IKBKB copy number gain
IKBKB copy number loss
2This gene is a known cancer gene.IKZF1
IKZF1 copy number gain
IKZF1 copy number loss
2This gene is a known cancer gene.IL2
IL2 copy number gain
IL2 copy number loss
2This gene is a known cancer gene.IL21R
IL21R copy number gain
IL21R copy number loss
2This gene is a known cancer gene.IL6ST
IL6ST copy number gain
IL6ST copy number loss
2This gene is a known cancer gene.IL7R
IL7R copy number gain
IL7R copy number loss
2This gene is a known cancer gene.IRF4
IRF4 copy number gain
IRF4 copy number loss
2This gene is a known cancer gene.ITK
ITK copy number gain
ITK copy number loss
2This gene is a known cancer gene.JAK1
JAK1 copy number gain
JAK1 copy number loss
2This gene is a known cancer gene.JAK2
JAK2 copy number gain
JAK2 copy number loss
2This gene is a known cancer gene.JAK3
JAK3 copy number gain
JAK3 copy number loss
2This gene is a known cancer gene.JAZF1
JAZF1 copy number gain
JAZF1 copy number loss
2This gene is a known cancer gene.JUN
JUN copy number gain
JUN copy number loss
2This gene is a known cancer gene.KAT6A
KAT6A copy number gain
KAT6A copy number loss
2This gene is a known cancer gene.KAT6B
KAT6B copy number gain
KAT6B copy number loss
2This gene is a known cancer gene.KCNJ5
KCNJ5 copy number gain
KCNJ5 copy number loss
2This gene is a known cancer gene.KDM5A
KDM5A copy number gain
KDM5A copy number loss
2This gene is a known cancer gene.KDM5C
KDM5C copy number gain
KDM5C copy number loss
2This gene is a known cancer gene.KDM6A
KDM6A copy number gain
KDM6A copy number loss
2This gene is a known cancer gene.KDR
KDR copy number gain
KDR copy number loss
2This gene is a known cancer gene.KDSR
KDSR copy number gain
KDSR copy number loss
2This gene is a known cancer gene.KIAA1549
KIAA1549 copy number gain
KIAA1549 copy number loss
2This gene is a known cancer gene.KIAA1598
KIAA1598 copy number gain
KIAA1598 copy number loss
2This gene is a known cancer gene.KIF5B
KIF5B copy number gain
KIF5B copy number loss
2This gene is a known cancer gene.KIT
KIT copy number gain
KIT copy number loss
2This gene is a known cancer gene.KLF4
KLF4 copy number gain
KLF4 copy number loss
2This gene is a known cancer gene.KLF6
KLF6 copy number gain
KLF6 copy number loss
2This gene is a known cancer gene.KLK2
KLK2 copy number gain
KLK2 copy number loss
2This gene is a known cancer gene.KMT2A
KMT2A copy number gain
KMT2A copy number loss
2This gene is a known cancer gene.KMT2C
KMT2C copy number gain
KMT2C copy number loss
2This gene is a known cancer gene.KMT2D
KMT2D copy number gain
KMT2D copy number loss
2This gene is a known cancer gene.KRAS
KRAS copy number gain
KRAS copy number loss
2This gene is a known cancer gene.KTN1
KTN1 copy number gain
KTN1 copy number loss
2This gene is a known cancer gene.LASP1
LASP1 copy number gain
LASP1 copy number loss
2This gene is a known cancer gene.LCK
LCK copy number gain
LCK copy number loss
2This gene is a known cancer gene.LCP1
LCP1 copy number gain
LCP1 copy number loss
2This gene is a known cancer gene.LHFP
LHFP copy number gain
LHFP copy number loss
2This gene is a known cancer gene.LIFR
LIFR copy number gain
LIFR copy number loss
2This gene is a known cancer gene.LMNA
LMNA copy number gain
LMNA copy number loss
2This gene is a known cancer gene.LMO1
LMO1 copy number gain
LMO1 copy number loss
2This gene is a known cancer gene.LMO2
LMO2 copy number gain
LMO2 copy number loss
2This gene is a known cancer gene.LPP
LPP copy number gain
LPP copy number loss
2This gene is a known cancer gene.LRIG3
LRIG3 copy number gain
LRIG3 copy number loss
2This gene is a known cancer gene.LSM14A
LSM14A copy number gain
LSM14A copy number loss
2This gene is a known cancer gene.LYL1
LYL1 copy number gain
LYL1 copy number loss
2This gene is a known cancer gene.LZTR1
LZTR1 copy number gain
LZTR1 copy number loss
2This gene is a known cancer gene.MAF
MAF copy number gain
MAF copy number loss
2This gene is a known cancer gene.MAFB
MAFB copy number gain
MAFB copy number loss
2This gene is a known cancer gene.MALT1
MALT1 copy number gain
MALT1 copy number loss
2This gene is a known cancer gene.MAML2
MAML2 copy number gain
MAML2 copy number loss
2This gene is a known cancer gene.MAP2K1
MAP2K1 copy number gain
MAP2K1 copy number loss
2This gene is a known cancer gene.MAP2K2
MAP2K2 copy number gain
MAP2K2 copy number loss
2This gene is a known cancer gene.MAP2K4
MAP2K4 copy number gain
MAP2K4 copy number loss
2This gene is a known cancer gene.MAP3K1
MAP3K1 copy number gain
MAP3K1 copy number loss
2This gene is a known cancer gene.MAP3K13
MAP3K13 copy number gain
MAP3K13 copy number loss
2This gene is a known cancer gene.MAX
MAX copy number gain
MAX copy number loss
2This gene is a known cancer gene.MDM2
MDM2 copy number gain
MDM2 copy number loss
2This gene is a known cancer gene.MDM4
MDM4 copy number gain
MDM4 copy number loss
2This gene is a known cancer gene.MDS2
MDS2 copy number gain
MDS2 copy number loss
2This gene is a known cancer gene.MECOM
MECOM copy number gain
MECOM copy number loss
2This gene is a known cancer gene.MED12
MED12 copy number gain
MED12 copy number loss
2This gene is a known cancer gene.MEN1
MEN1 copy number gain
MEN1 copy number loss
2This gene is a known cancer gene.MET
MET copy number gain
MET copy number loss
2This gene is a known cancer gene.MITF
MITF copy number gain
MITF copy number loss
2This gene is a known cancer gene.MKL1
MKL1 copy number gain
MKL1 copy number loss
2This gene is a known cancer gene.MLF1
MLF1 copy number gain
MLF1 copy number loss
2This gene is a known cancer gene.MLH1
MLH1 copy number gain
MLH1 copy number loss
2This gene is a known cancer gene.MLLT1
MLLT1 copy number gain
MLLT1 copy number loss
2This gene is a known cancer gene.MLLT10
MLLT10 copy number gain
MLLT10 copy number loss
2This gene is a known cancer gene.MLLT11
MLLT11 copy number gain
MLLT11 copy number loss
2This gene is a known cancer gene.MLLT3
MLLT3 copy number gain
MLLT3 copy number loss
2This gene is a known cancer gene.MLLT4
MLLT4 copy number gain
MLLT4 copy number loss
2This gene is a known cancer gene.MLLT6
MLLT6 copy number gain
MLLT6 copy number loss
2This gene is a known cancer gene.MN1
MN1 copy number gain
MN1 copy number loss
2This gene is a known cancer gene.MNX1
MNX1 copy number gain
MNX1 copy number loss
2This gene is a known cancer gene.MPL
MPL copy number gain
MPL copy number loss
2This gene is a known cancer gene.MSH2
MSH2 copy number gain
MSH2 copy number loss
2This gene is a known cancer gene.MSH6
MSH6 copy number gain
MSH6 copy number loss
2This gene is a known cancer gene.MSI2
MSI2 copy number gain
MSI2 copy number loss
2This gene is a known cancer gene.MSN
MSN copy number gain
MSN copy number loss
2This gene is a known cancer gene.MTCP1
MTCP1 copy number gain
MTCP1 copy number loss
2This gene is a known cancer gene.MUC1
MUC1 copy number gain
MUC1 copy number loss
2This gene is a known cancer gene.MUTYH
MUTYH copy number gain
MUTYH copy number loss
2This gene is a known cancer gene.MYB
MYB copy number gain
MYB copy number loss
2This gene is a known cancer gene.MYC
MYC copy number gain
MYC copy number loss
2This gene is a known cancer gene.MYCL
MYCL copy number gain
MYCL copy number loss
2This gene is a known cancer gene.MYCN
MYCN copy number gain
MYCN copy number loss
2This gene is a known cancer gene.MYD88
MYD88 copy number gain
MYD88 copy number loss
2This gene is a known cancer gene.MYH11
MYH11 copy number gain
MYH11 copy number loss
2This gene is a known cancer gene.MYH9
MYH9 copy number gain
MYH9 copy number loss
2This gene is a known cancer gene.MYO5A
MYO5A copy number gain
MYO5A copy number loss
2This gene is a known cancer gene.MYOD1
MYOD1 copy number gain
MYOD1 copy number loss
2This gene is a known cancer gene.NAB2
NAB2 copy number gain
NAB2 copy number loss
2This gene is a known cancer gene.NACA
NACA copy number gain
NACA copy number loss
2This gene is a known cancer gene.NBN
NBN copy number gain
NBN copy number loss
2This gene is a known cancer gene.NCKIPSD
NCKIPSD copy number gain
NCKIPSD copy number loss
2This gene is a known cancer gene.NCOA1
NCOA1 copy number gain
NCOA1 copy number loss
2This gene is a known cancer gene.NCOA2
NCOA2 copy number gain
NCOA2 copy number loss
2This gene is a known cancer gene.NCOA4
NCOA4 copy number gain
NCOA4 copy number loss
2This gene is a known cancer gene.NCOR1
NCOR1 copy number gain
NCOR1 copy number loss
2This gene is a known cancer gene.NDRG1
NDRG1 copy number gain
NDRG1 copy number loss
2This gene is a known cancer gene.NF1
NF1 copy number gain
NF1 copy number loss
2This gene is a known cancer gene.NF2
NF2 copy number gain
NF2 copy number loss
2This gene is a known cancer gene.NFATC2
NFATC2 copy number gain
NFATC2 copy number loss
2This gene is a known cancer gene.NFE2L2
NFE2L2 copy number gain
NFE2L2 copy number loss
2This gene is a known cancer gene.NFIB
NFIB copy number gain
NFIB copy number loss
2This gene is a known cancer gene.NFKB2
NFKB2 copy number gain
NFKB2 copy number loss
2This gene is a known cancer gene.NFKBIE
NFKBIE copy number gain
NFKBIE copy number loss
2This gene is a known cancer gene.NIN
NIN copy number gain
NIN copy number loss
2This gene is a known cancer gene.NKX2-1
NKX2-1 copy number gain
NKX2-1 copy number loss
2This gene is a known cancer gene.NONO
NONO copy number gain
NONO copy number loss
2This gene is a known cancer gene.NOTCH1
NOTCH1 copy number gain
NOTCH1 copy number loss
2This gene is a known cancer gene.NOTCH2
NOTCH2 copy number gain
NOTCH2 copy number loss
2This gene is a known cancer gene.NOTCH3
NOTCH3 copy number gain
NOTCH3 copy number loss
2This gene is a known cancer gene.NPM1
NPM1 copy number gain
NPM1 copy number loss
2This gene is a known cancer gene.NR4A3
NR4A3 copy number gain
NR4A3 copy number loss
2This gene is a known cancer gene.NRAS
NRAS copy number gain
NRAS copy number loss
2This gene is a known cancer gene.NRG1
NRG1 copy number gain
NRG1 copy number loss
2This gene is a known cancer gene.NSD1
NSD1 copy number gain
NSD1 copy number loss
2This gene is a known cancer gene.NT5C2
NT5C2 copy number gain
NT5C2 copy number loss
2This gene is a known cancer gene.NTRK1
NTRK1 copy number gain
NTRK1 copy number loss
2This gene is a known cancer gene.NTRK3
NTRK3 copy number gain
NTRK3 copy number loss
2This gene is a known cancer gene.NUMA1
NUMA1 copy number gain
NUMA1 copy number loss
2This gene is a known cancer gene.NUP214
NUP214 copy number gain
NUP214 copy number loss
2This gene is a known cancer gene.NUP98
NUP98 copy number gain
NUP98 copy number loss
2This gene is a known cancer gene.NUTM1
NUTM1 copy number gain
NUTM1 copy number loss
2This gene is a known cancer gene.NUTM2A
NUTM2A copy number gain
NUTM2A copy number loss
2This gene is a known cancer gene.NUTM2B
NUTM2B copy number gain
NUTM2B copy number loss
2This gene is a known cancer gene.OLIG2
OLIG2 copy number gain
OLIG2 copy number loss
2This gene is a known cancer gene.OMD
OMD copy number gain
OMD copy number loss
2This gene is a known cancer gene.P2RY8
P2RY8 copy number gain
P2RY8 copy number loss
2This gene is a known cancer gene.PAFAH1B2
PAFAH1B2 copy number gain
PAFAH1B2 copy number loss
2This gene is a known cancer gene.PALB2
PALB2 copy number gain
PALB2 copy number loss
2This gene is a known cancer gene.PAX3
PAX3 copy number gain
PAX3 copy number loss
2This gene is a known cancer gene.PAX5
PAX5 copy number gain
PAX5 copy number loss
2This gene is a known cancer gene.PAX7
PAX7 copy number gain
PAX7 copy number loss
2This gene is a known cancer gene.PAX8
PAX8 copy number gain
PAX8 copy number loss
2This gene is a known cancer gene.PBRM1
PBRM1 copy number gain
PBRM1 copy number loss
2This gene is a known cancer gene.PBX1
PBX1 copy number gain
PBX1 copy number loss
2This gene is a known cancer gene.PCM1
PCM1 copy number gain
PCM1 copy number loss
2This gene is a known cancer gene.PCSK7
PCSK7 copy number gain
PCSK7 copy number loss
2This gene is a known cancer gene.PDCD1LG2
PDCD1LG2 copy number gain
PDCD1LG2 copy number loss
2This gene is a known cancer gene.PDE4DIP
PDE4DIP copy number gain
PDE4DIP copy number loss
2This gene is a known cancer gene.PDGFB
PDGFB copy number gain
PDGFB copy number loss
2This gene is a known cancer gene.PDGFRA
PDGFRA copy number gain
PDGFRA copy number loss
2This gene is a known cancer gene.PDGFRB
PDGFRB copy number gain
PDGFRB copy number loss
2This gene is a known cancer gene.PER1
PER1 copy number gain
PER1 copy number loss
2This gene is a known cancer gene.PHF6
PHF6 copy number gain
PHF6 copy number loss
2This gene is a known cancer gene.PHOX2B
PHOX2B copy number gain
PHOX2B copy number loss
2This gene is a known cancer gene.PICALM
PICALM copy number gain
PICALM copy number loss
2This gene is a known cancer gene.PIK3CA
PIK3CA copy number gain
PIK3CA copy number loss
2This gene is a known cancer gene.PIK3R1
PIK3R1 copy number gain
PIK3R1 copy number loss
2This gene is a known cancer gene.PIM1
PIM1 copy number gain
PIM1 copy number loss
2This gene is a known cancer gene.PLAG1
PLAG1 copy number gain
PLAG1 copy number loss
2This gene is a known cancer gene.PLCG1
PLCG1 copy number gain
PLCG1 copy number loss
2This gene is a known cancer gene.PML
PML copy number gain
PML copy number loss
2This gene is a known cancer gene.PMS1
PMS1 copy number gain
PMS1 copy number loss
2This gene is a known cancer gene.PMS2
PMS2 copy number gain
PMS2 copy number loss
2This gene is a known cancer gene.POLE
POLE copy number gain
POLE copy number loss
2This gene is a known cancer gene.POT1
POT1 copy number gain
POT1 copy number loss
2This gene is a known cancer gene.POU2AF1
POU2AF1 copy number gain
POU2AF1 copy number loss
2This gene is a known cancer gene.POU5F1
POU5F1 copy number gain
POU5F1 copy number loss
2This gene is a known cancer gene.PPARG
PPARG copy number gain
PPARG copy number loss
2This gene is a known cancer gene.PPFIBP1
PPFIBP1 copy number gain
PPFIBP1 copy number loss
2This gene is a known cancer gene.PPP2R1A
PPP2R1A copy number gain
PPP2R1A copy number loss
2This gene is a known cancer gene.PPP6C
PPP6C copy number gain
PPP6C copy number loss
2This gene is a known cancer gene.PRCC
PRCC copy number gain
PRCC copy number loss
2This gene is a known cancer gene.PRDM1
PRDM1 copy number gain
PRDM1 copy number loss
2This gene is a known cancer gene.PRDM16
PRDM16 copy number gain
PRDM16 copy number loss
2This gene is a known cancer gene.PRF1
PRF1 copy number gain
PRF1 copy number loss
2This gene is a known cancer gene.PRKAR1A
PRKAR1A copy number gain
PRKAR1A copy number loss
2This gene is a known cancer gene.PRRX1
PRRX1 copy number gain
PRRX1 copy number loss
2This gene is a known cancer gene.PSIP1
PSIP1 copy number gain
PSIP1 copy number loss
2This gene is a known cancer gene.PTCH1
PTCH1 copy number gain
PTCH1 copy number loss
2This gene is a known cancer gene.PTEN
PTEN copy number gain
PTEN copy number loss
2This gene is a known cancer gene.PTPN11
PTPN11 copy number gain
PTPN11 copy number loss
2This gene is a known cancer gene.PTPRB
PTPRB copy number gain
PTPRB copy number loss
2This gene is a known cancer gene.PTPRC
PTPRC copy number gain
PTPRC copy number loss
2This gene is a known cancer gene.PTPRK
PTPRK copy number gain
PTPRK copy number loss
2This gene is a known cancer gene.PWWP2A
PWWP2A copy number gain
PWWP2A copy number loss
2This gene is a known cancer gene.RABEP1
RABEP1 copy number gain
RABEP1 copy number loss
2This gene is a known cancer gene.RAC1
RAC1 copy number gain
RAC1 copy number loss
2This gene is a known cancer gene.RAD21
RAD21 copy number gain
RAD21 copy number loss
2This gene is a known cancer gene.RAD51B
RAD51B copy number gain
RAD51B copy number loss
2This gene is a known cancer gene.RAF1
RAF1 copy number gain
RAF1 copy number loss
2This gene is a known cancer gene.RALGDS
RALGDS copy number gain
RALGDS copy number loss
2This gene is a known cancer gene.RANBP17
RANBP17 copy number gain
RANBP17 copy number loss
2This gene is a known cancer gene.RANBP2
RANBP2 copy number gain
RANBP2 copy number loss
2This gene is a known cancer gene.RAP1GDS1
RAP1GDS1 copy number gain
RAP1GDS1 copy number loss
2This gene is a known cancer gene.RARA
RARA copy number gain
RARA copy number loss
2This gene is a known cancer gene.RB1
RB1 copy number gain
RB1 copy number loss
2This gene is a known cancer gene.RBM15
RBM15 copy number gain
RBM15 copy number loss
2This gene is a known cancer gene.RECQL4
RECQL4 copy number gain
RECQL4 copy number loss
2This gene is a known cancer gene.REL
REL copy number gain
REL copy number loss
2This gene is a known cancer gene.RET
RET copy number gain
RET copy number loss
2This gene is a known cancer gene.RHOA
RHOA copy number gain
RHOA copy number loss
2This gene is a known cancer gene.RHOH
RHOH copy number gain
RHOH copy number loss
2This gene is a known cancer gene.RMI2
RMI2 copy number gain
RMI2 copy number loss
2This gene is a known cancer gene.RNF213
RNF213 copy number gain
RNF213 copy number loss
2This gene is a known cancer gene.RNF43
RNF43 copy number gain
RNF43 copy number loss
2This gene is a known cancer gene.ROS1
ROS1 copy number gain
ROS1 copy number loss
2This gene is a known cancer gene.RPL10
RPL10 copy number gain
RPL10 copy number loss
2This gene is a known cancer gene.RPL22
RPL22 copy number gain
RPL22 copy number loss
2This gene is a known cancer gene.RPL5
RPL5 copy number gain
RPL5 copy number loss
2This gene is a known cancer gene.RPN1
RPN1 copy number gain
RPN1 copy number loss
2This gene is a known cancer gene.RSPO2
RSPO2 copy number gain
RSPO2 copy number loss
2This gene is a known cancer gene.RSPO3
RSPO3 copy number gain
RSPO3 copy number loss
2This gene is a known cancer gene.SNX29
SNX29 copy number gain
SNX29 copy number loss
2This gene is a known cancer gene.RUNX1
RUNX1 copy number gain
RUNX1 copy number loss
2This gene is a known cancer gene.RUNX1T1
RUNX1T1 copy number gain
RUNX1T1 copy number loss
2This gene is a known cancer gene.SBDS
SBDS copy number gain
SBDS copy number loss
2This gene is a known cancer gene.SDC4
SDC4 copy number gain
SDC4 copy number loss
2This gene is a known cancer gene.SDHAF2
SDHAF2 copy number gain
SDHAF2 copy number loss
2This gene is a known cancer gene.SDHB
SDHB copy number gain
SDHB copy number loss
2This gene is a known cancer gene.SDHC
SDHC copy number gain
SDHC copy number loss
2This gene is a known cancer gene.SEPT5
SEPT5 copy number gain
SEPT5 copy number loss
2This gene is a known cancer gene.SEPT6
SEPT6 copy number gain
SEPT6 copy number loss
2This gene is a known cancer gene.SEPT9
SEPT9 copy number gain
SEPT9 copy number loss
2This gene is a known cancer gene.SET
SET copy number gain
SET copy number loss
2This gene is a known cancer gene.SETBP1
SETBP1 copy number gain
SETBP1 copy number loss
2This gene is a known cancer gene.SETD2
SETD2 copy number gain
SETD2 copy number loss
2This gene is a known cancer gene.SF3B1
SF3B1 copy number gain
SF3B1 copy number loss
2This gene is a known cancer gene.SFPQ
SFPQ copy number gain
SFPQ copy number loss
2This gene is a known cancer gene.SH2B3
SH2B3 copy number gain
SH2B3 copy number loss
2This gene is a known cancer gene.SH3GL1
SH3GL1 copy number gain
SH3GL1 copy number loss
2This gene is a known cancer gene.SLC34A2
SLC34A2 copy number gain
SLC34A2 copy number loss
2This gene is a known cancer gene.SLC45A3
SLC45A3 copy number gain
SLC45A3 copy number loss
2This gene is a known cancer gene.SMAD4
SMAD4 copy number gain
SMAD4 copy number loss
2This gene is a known cancer gene.SMARCA4
SMARCA4 copy number gain
SMARCA4 copy number loss
2This gene is a known cancer gene.SMARCB1
SMARCB1 copy number gain
SMARCB1 copy number loss
2This gene is a known cancer gene.SMARCD1
SMARCD1 copy number gain
SMARCD1 copy number loss
2This gene is a known cancer gene.SMARCE1
SMARCE1 copy number gain
SMARCE1 copy number loss
2This gene is a known cancer gene.SMO
SMO copy number gain
SMO copy number loss
2This gene is a known cancer gene.SND1
SND1 copy number gain
SND1 copy number loss
2This gene is a known cancer gene.SOCS1
SOCS1 copy number gain
SOCS1 copy number loss
2This gene is a known cancer gene.SOX2
SOX2 copy number gain
SOX2 copy number loss
2This gene is a known cancer gene.SPECC1
SPECC1 copy number gain
SPECC1 copy number loss
2This gene is a known cancer gene.SPEN
SPEN copy number gain
SPEN copy number loss
2This gene is a known cancer gene.SPOP
SPOP copy number gain
SPOP copy number loss
2This gene is a known cancer gene.SRGAP3
SRGAP3 copy number gain
SRGAP3 copy number loss
2This gene is a known cancer gene.SRSF2
SRSF2 copy number gain
SRSF2 copy number loss
2This gene is a known cancer gene.SRSF3
SRSF3 copy number gain
SRSF3 copy number loss
2This gene is a known cancer gene.SS18
SS18 copy number gain
SS18 copy number loss
2This gene is a known cancer gene.SS18L1
SS18L1 copy number gain
SS18L1 copy number loss
2This gene is a known cancer gene.SSX1
SSX1 copy number gain
SSX1 copy number loss
2This gene is a known cancer gene.SSX2
SSX2 copy number gain
SSX2 copy number loss
2This gene is a known cancer gene.SSX4
SSX4 copy number gain
SSX4 copy number loss
2This gene is a known cancer gene.STAG2
STAG2 copy number gain
STAG2 copy number loss
2This gene is a known cancer gene.STAT3
STAT3 copy number gain
STAT3 copy number loss
2This gene is a known cancer gene.STAT5B
STAT5B copy number gain
STAT5B copy number loss
2This gene is a known cancer gene.STAT6
STAT6 copy number gain
STAT6 copy number loss
2This gene is a known cancer gene.STIL
STIL copy number gain
STIL copy number loss
2This gene is a known cancer gene.STK11
STK11 copy number gain
STK11 copy number loss
2This gene is a known cancer gene.STRN
STRN copy number gain
STRN copy number loss
2This gene is a known cancer gene.SUFU
SUFU copy number gain
SUFU copy number loss
2This gene is a known cancer gene.SUZ12
SUZ12 copy number gain
SUZ12 copy number loss
2This gene is a known cancer gene.SYK
SYK copy number gain
SYK copy number loss
2This gene is a known cancer gene.TAF15
TAF15 copy number gain
TAF15 copy number loss
2This gene is a known cancer gene.TAL1
TAL1 copy number gain
TAL1 copy number loss
2This gene is a known cancer gene.TAL2
TAL2 copy number gain
TAL2 copy number loss
2This gene is a known cancer gene.TBL1XR1
TBL1XR1 copy number gain
TBL1XR1 copy number loss
2This gene is a known cancer gene.TBX3
TBX3 copy number gain
TBX3 copy number loss
2This gene is a known cancer gene.TCEA1
TCEA1 copy number gain
TCEA1 copy number loss
2This gene is a known cancer gene.TCF12
TCF12 copy number gain
TCF12 copy number loss
2This gene is a known cancer gene.TCF3
TCF3 copy number gain
TCF3 copy number loss
2This gene is a known cancer gene.TCF7L2
TCF7L2 copy number gain
TCF7L2 copy number loss
2This gene is a known cancer gene.TCL1A
TCL1A copy number gain
TCL1A copy number loss
2This gene is a known cancer gene.TERT
TERT copy number gain
TERT copy number loss
2This gene is a known cancer gene.TET1
TET1 copy number gain
TET1 copy number loss
2This gene is a known cancer gene.TET2
TET2 copy number gain
TET2 copy number loss
2This gene is a known cancer gene.TFE3
TFE3 copy number gain
TFE3 copy number loss
2This gene is a known cancer gene.TFEB
TFEB copy number gain
TFEB copy number loss
2This gene is a known cancer gene.TFG
TFG copy number gain
TFG copy number loss
2This gene is a known cancer gene.TFPT
TFPT copy number gain
TFPT copy number loss
2This gene is a known cancer gene.TFRC
TFRC copy number gain
TFRC copy number loss
2This gene is a known cancer gene.THRAP3
THRAP3 copy number gain
THRAP3 copy number loss
2This gene is a known cancer gene.TLX1
TLX1 copy number gain
TLX1 copy number loss
2This gene is a known cancer gene.TLX3
TLX3 copy number gain
TLX3 copy number loss
2This gene is a known cancer gene.TMPRSS2
TMPRSS2 copy number gain
TMPRSS2 copy number loss
2This gene is a known cancer gene.TNFAIP3
TNFAIP3 copy number gain
TNFAIP3 copy number loss
2This gene is a known cancer gene.TNFRSF14
TNFRSF14 copy number gain
TNFRSF14 copy number loss
2This gene is a known cancer gene.TNFRSF17
TNFRSF17 copy number gain
TNFRSF17 copy number loss
2This gene is a known cancer gene.TOP1
TOP1 copy number gain
TOP1 copy number loss
2This gene is a known cancer gene.TP53
TP53 copy number gain
TP53 copy number loss
2This gene is a known cancer gene.TPM3
TPM3 copy number gain
TPM3 copy number loss
2This gene is a known cancer gene.TPM4
TPM4 copy number gain
TPM4 copy number loss
2This gene is a known cancer gene.TPR
TPR copy number gain
TPR copy number loss
2This gene is a known cancer gene.TRAF7
TRAF7 copy number gain
TRAF7 copy number loss
2This gene is a known cancer gene.TRIM24
TRIM24 copy number gain
TRIM24 copy number loss
2This gene is a known cancer gene.TRIM27
TRIM27 copy number gain
TRIM27 copy number loss
2This gene is a known cancer gene.TRIM33
TRIM33 copy number gain
TRIM33 copy number loss
2This gene is a known cancer gene.TRIP11
TRIP11 copy number gain
TRIP11 copy number loss
2This gene is a known cancer gene.TRRAP
TRRAP copy number gain
TRRAP copy number loss
2This gene is a known cancer gene.TSC1
TSC1 copy number gain
TSC1 copy number loss
2This gene is a known cancer gene.TSC2
TSC2 copy number gain
TSC2 copy number loss
2This gene is a known cancer gene.TSHR
TSHR copy number gain
TSHR copy number loss
2This gene is a known cancer gene.TTL
TTL copy number gain
TTL copy number loss
2This gene is a known cancer gene.U2AF1
U2AF1 copy number gain
U2AF1 copy number loss
2This gene is a known cancer gene.UBR5
UBR5 copy number gain
UBR5 copy number loss
2This gene is a known cancer gene.USP6
USP6 copy number gain
USP6 copy number loss
2This gene is a known cancer gene.VHL
VHL copy number gain
VHL copy number loss
2This gene is a known cancer gene.VTI1A
VTI1A copy number gain
VTI1A copy number loss
2This gene is a known cancer gene.WAS
WAS copy number gain
WAS copy number loss
2This gene is a known cancer gene.WHSC1
WHSC1 copy number gain
WHSC1 copy number loss
2This gene is a known cancer gene.WHSC1L1
WHSC1L1 copy number gain
WHSC1L1 copy number loss
2This gene is a known cancer gene.WIF1
WIF1 copy number gain
WIF1 copy number loss
2This gene is a known cancer gene.WRN
WRN copy number gain
WRN copy number loss
2This gene is a known cancer gene.WT1
WT1 copy number gain
WT1 copy number loss
2This gene is a known cancer gene.WWTR1
WWTR1 copy number gain
WWTR1 copy number loss
2This gene is a known cancer gene.XPA
XPA copy number gain
XPA copy number loss
2This gene is a known cancer gene.XPC
XPC copy number gain
XPC copy number loss
2This gene is a known cancer gene.XPO1
XPO1 copy number gain
XPO1 copy number loss
2This gene is a known cancer gene.YWHAE
YWHAE copy number gain
YWHAE copy number loss
2This gene is a known cancer gene.ZBTB16
ZBTB16 copy number gain
ZBTB16 copy number loss
2This gene is a known cancer gene.ZCCHC8
ZCCHC8 copy number gain
ZCCHC8 copy number loss
2This gene is a known cancer gene.ZMYM2
ZMYM2 copy number gain
ZMYM2 copy number loss
2This gene is a known cancer gene.PATZ1
PATZ1 copy number gain
PATZ1 copy number loss
2This gene is a known cancer gene.ZNF331
ZNF331 copy number gain
ZNF331 copy number loss
2This gene is a known cancer gene.ZNF384
ZNF384 copy number gain
ZNF384 copy number loss
2This gene is a known cancer gene.ZNF521
ZNF521 copy number gain
ZNF521 copy number loss
2This gene is a known cancer gene.ZRSR2
ZRSR2 copy number gain
ZRSR2 copy number loss
2This gene is a known cancer gene.ABI1
ABI1 any mutation
2This gene is a known cancer gene.ABL1
ABL1 any mutation
2This gene is a known cancer gene.ACKR3
ACKR3 any mutation
2This gene is a known cancer gene.ACSL3
ACSL3 any mutation
2This gene is a known cancer gene.ACSL6
ACSL6 any mutation
2This gene is a known cancer gene.ABL2
ABL2 any mutation
2This gene is a known cancer gene.ACVR1
ACVR1 any mutation
2This gene is a known cancer gene.AFF1
AFF1 any mutation
2This gene is a known cancer gene.AFF3
AFF3 any mutation
2This gene is a known cancer gene.AFF4
AFF4 any mutation
2This gene is a known cancer gene.AKAP9
AKAP9 any mutation
2This gene is a known cancer gene.AKT1
AKT1 any mutation
2This gene is a known cancer gene.AKT2
AKT2 any mutation
2This gene is a known cancer gene.ALDH2
ALDH2 any mutation
2This gene is a known cancer gene.ALK
ALK any mutation
2This gene is a known cancer gene.AMER1
AMER1 any mutation
2This gene is a known cancer gene.APC
APC any mutation
2This gene is a known cancer gene.AR
AR any mutation
2This gene is a known cancer gene.ARHGAP26
ARHGAP26 any mutation
2This gene is a known cancer gene.ARHGEF12
ARHGEF12 any mutation
2This gene is a known cancer gene.ARID1B
ARID1B any mutation
2This gene is a known cancer gene.ARID2
ARID2 any mutation
2This gene is a known cancer gene.ARNT
ARNT any mutation
2This gene is a known cancer gene.ASPSCR1
ASPSCR1 any mutation
2This gene is a known cancer gene.ASXL1
ASXL1 any mutation
2This gene is a known cancer gene.ATF1
ATF1 any mutation
2This gene is a known cancer gene.ATIC
ATIC any mutation
2This gene is a known cancer gene.ATM
ATM any mutation
2This gene is a known cancer gene.ATP1A1
ATP1A1 any mutation
2This gene is a known cancer gene.ATP2B3
ATP2B3 any mutation
2This gene is a known cancer gene.ATR
ATR any mutation
2This gene is a known cancer gene.ATRX
ATRX any mutation
2This gene is a known cancer gene.AXIN1
AXIN1 any mutation
2This gene is a known cancer gene.AXIN2
AXIN2 any mutation
2This gene is a known cancer gene.BAP1
BAP1 any mutation
2This gene is a known cancer gene.BCL10
BCL10 any mutation
2This gene is a known cancer gene.BCL11A
BCL11A any mutation
2This gene is a known cancer gene.BCL11B
BCL11B any mutation
2This gene is a known cancer gene.BCL2
BCL2 any mutation
2This gene is a known cancer gene.BCL3
BCL3 any mutation
2This gene is a known cancer gene.BCL6
BCL6 any mutation
2This gene is a known cancer gene.BCL7A
BCL7A any mutation
2This gene is a known cancer gene.BCL9
BCL9 any mutation
2This gene is a known cancer gene.BCOR
BCOR any mutation
2This gene is a known cancer gene.BCR
BCR any mutation
2This gene is a known cancer gene.BIRC3
BIRC3 any mutation
2This gene is a known cancer gene.BLM
BLM any mutation
2This gene is a known cancer gene.BMPR1A
BMPR1A any mutation
2This gene is a known cancer gene.BRAF
BRAF any mutation
2This gene is a known cancer gene.BRCA1
BRCA1 any mutation
2This gene is a known cancer gene.BRCA2
BRCA2 any mutation
2This gene is a known cancer gene.BRD3
BRD3 any mutation
2This gene is a known cancer gene.BRD4
BRD4 any mutation
2This gene is a known cancer gene.BRIP1
BRIP1 any mutation
2This gene is a known cancer gene.BTG1
BTG1 any mutation
2This gene is a known cancer gene.BUB1B
BUB1B any mutation
2This gene is a known cancer gene.C15ORF65
C15ORF65 any mutation
2This gene is a known cancer gene.C2ORF44
C2ORF44 any mutation
2This gene is a known cancer gene.CACNA1D
CACNA1D any mutation
2This gene is a known cancer gene.CALR
CALR any mutation
2This gene is a known cancer gene.CAMTA1
CAMTA1 any mutation
2This gene is a known cancer gene.CANT1
CANT1 any mutation
2This gene is a known cancer gene.CARD11
CARD11 any mutation
2This gene is a known cancer gene.CARS
CARS any mutation
2This gene is a known cancer gene.CASC5
CASC5 any mutation
2This gene is a known cancer gene.CASP8
CASP8 any mutation
2This gene is a known cancer gene.CBFA2T3
CBFA2T3 any mutation
2This gene is a known cancer gene.CBFB
CBFB any mutation
2This gene is a known cancer gene.CBL
CBL any mutation
2This gene is a known cancer gene.CBLB
CBLB any mutation
2This gene is a known cancer gene.CBLC
CBLC any mutation
2This gene is a known cancer gene.CCDC6
CCDC6 any mutation
2This gene is a known cancer gene.CCNB1IP1
CCNB1IP1 any mutation
2This gene is a known cancer gene.CCND1
CCND1 any mutation
2This gene is a known cancer gene.CCND2
CCND2 any mutation
2This gene is a known cancer gene.CCND3
CCND3 any mutation
2This gene is a known cancer gene.CCNE1
CCNE1 any mutation
2This gene is a known cancer gene.CD274
CD274 any mutation
2This gene is a known cancer gene.CD74
CD74 any mutation
2This gene is a known cancer gene.CD79A
CD79A any mutation
2This gene is a known cancer gene.CD79B
CD79B any mutation
2This gene is a known cancer gene.CDC73
CDC73 any mutation
2This gene is a known cancer gene.CDH1
CDH1 any mutation
2This gene is a known cancer gene.CDH11
CDH11 any mutation
2This gene is a known cancer gene.CDK12
CDK12 any mutation
2This gene is a known cancer gene.CDK4
CDK4 any mutation
2This gene is a known cancer gene.CDK6
CDK6 any mutation
2This gene is a known cancer gene.CDKN1B
CDKN1B any mutation
2This gene is a known cancer gene.CDKN2A
CDKN2A any mutation
2This gene is a known cancer gene.CDKN2B
CDKN2B any mutation
2This gene is a known cancer gene.CDKN2C
CDKN2C any mutation
2This gene is a known cancer gene.CDX2
CDX2 any mutation
2This gene is a known cancer gene.CEBPA
CEBPA any mutation
2This gene is a known cancer gene.CEP89
CEP89 any mutation
2This gene is a known cancer gene.CHCHD7
CHCHD7 any mutation
2This gene is a known cancer gene.CHEK2
CHEK2 any mutation
2This gene is a known cancer gene.CHIC2
CHIC2 any mutation
2This gene is a known cancer gene.CHN1
CHN1 any mutation
2This gene is a known cancer gene.CIC
CIC any mutation
2This gene is a known cancer gene.CIITA
CIITA any mutation
2This gene is a known cancer gene.CLIP1
CLIP1 any mutation
2This gene is a known cancer gene.CLP1
CLP1 any mutation
2This gene is a known cancer gene.CLTC
CLTC any mutation
2This gene is a known cancer gene.CLTCL1
CLTCL1 any mutation
2This gene is a known cancer gene.CNBP
CNBP any mutation
2This gene is a known cancer gene.CNOT3
CNOT3 any mutation
2This gene is a known cancer gene.CNTRL
CNTRL any mutation
2This gene is a known cancer gene.COL1A1
COL1A1 any mutation
2This gene is a known cancer gene.COL2A1
COL2A1 any mutation
2This gene is a known cancer gene.COX6C
COX6C any mutation
2This gene is a known cancer gene.CREB1
CREB1 any mutation
2This gene is a known cancer gene.CREB3L1
CREB3L1 any mutation
2This gene is a known cancer gene.CREB3L2
CREB3L2 any mutation
2This gene is a known cancer gene.CREBBP
CREBBP any mutation
2This gene is a known cancer gene.CRLF2
CRLF2 any mutation
2This gene is a known cancer gene.CRTC1
CRTC1 any mutation
2This gene is a known cancer gene.CRTC3
CRTC3 any mutation
2This gene is a known cancer gene.CSF1R
CSF1R any mutation
2This gene is a known cancer gene.CSF3R
CSF3R any mutation
2This gene is a known cancer gene.CTNNB1
CTNNB1 any mutation
2This gene is a known cancer gene.CUX1
CUX1 any mutation
2This gene is a known cancer gene.CYLD
CYLD any mutation
2This gene is a known cancer gene.DAXX
DAXX any mutation
2This gene is a known cancer gene.DCTN1
DCTN1 any mutation
2This gene is a known cancer gene.DDB2
DDB2 any mutation
2This gene is a known cancer gene.DDIT3
DDIT3 any mutation
2This gene is a known cancer gene.DDX10
DDX10 any mutation
2This gene is a known cancer gene.DDX5
DDX5 any mutation
2This gene is a known cancer gene.DDX6
DDX6 any mutation
2This gene is a known cancer gene.DEK
DEK any mutation
2This gene is a known cancer gene.DICER1
DICER1 any mutation
2This gene is a known cancer gene.DNM2
DNM2 any mutation
2This gene is a known cancer gene.DNMT3A
DNMT3A any mutation
2This gene is a known cancer gene.DUX4
DUX4 any mutation
2This gene is a known cancer gene.EBF1
EBF1 any mutation
2This gene is a known cancer gene.ECT2L
ECT2L any mutation
2This gene is a known cancer gene.EGFR
EGFR any mutation
2This gene is a known cancer gene.EIF3E
EIF3E any mutation
2This gene is a known cancer gene.EIF4A2
EIF4A2 any mutation
2This gene is a known cancer gene.ELF4
ELF4 any mutation
2This gene is a known cancer gene.ELK4
ELK4 any mutation
2This gene is a known cancer gene.ELL
ELL any mutation
2This gene is a known cancer gene.ELN
ELN any mutation
2This gene is a known cancer gene.EML4
EML4 any mutation
2This gene is a known cancer gene.EPHA3
EPHA3 any mutation
2This gene is a known cancer gene.EP300
EP300 any mutation
2This gene is a known cancer gene.EPS15
EPS15 any mutation
2This gene is a known cancer gene.ERBB2
ERBB2 any mutation
2This gene is a known cancer gene.ERBB3
ERBB3 any mutation
2This gene is a known cancer gene.ERC1
ERC1 any mutation
2This gene is a known cancer gene.ERCC2
ERCC2 any mutation
2This gene is a known cancer gene.ERCC3
ERCC3 any mutation
2This gene is a known cancer gene.ERCC4
ERCC4 any mutation
2This gene is a known cancer gene.ERCC5
ERCC5 any mutation
2This gene is a known cancer gene.ERG
ERG any mutation
2This gene is a known cancer gene.ESR1
ESR1 any mutation
2This gene is a known cancer gene.ETNK1
ETNK1 any mutation
2This gene is a known cancer gene.ETV1
ETV1 any mutation
2This gene is a known cancer gene.ETV4
ETV4 any mutation
2This gene is a known cancer gene.ETV5
ETV5 any mutation
2This gene is a known cancer gene.ETV6
ETV6 any mutation
2This gene is a known cancer gene.EWSR1
EWSR1 any mutation
2This gene is a known cancer gene.EXT1
EXT1 any mutation
2This gene is a known cancer gene.EXT2
EXT2 any mutation
2This gene is a known cancer gene.EZH2
EZH2 any mutation
2This gene is a known cancer gene.EZR
EZR any mutation
2This gene is a known cancer gene.FAM131B
FAM131B any mutation
2This gene is a known cancer gene.FAM46C
FAM46C any mutation
2This gene is a known cancer gene.FANCA
FANCA any mutation
2This gene is a known cancer gene.FANCC
FANCC any mutation
2This gene is a known cancer gene.FANCD2
FANCD2 any mutation
2This gene is a known cancer gene.FANCE
FANCE any mutation
2This gene is a known cancer gene.FANCF
FANCF any mutation
2This gene is a known cancer gene.FANCG
FANCG any mutation
2This gene is a known cancer gene.FAS
FAS any mutation
2This gene is a known cancer gene.FBXO11
FBXO11 any mutation
2This gene is a known cancer gene.FBXW7
FBXW7 any mutation
2This gene is a known cancer gene.FCGR2B
FCGR2B any mutation
2This gene is a known cancer gene.FCRL4
FCRL4 any mutation
2This gene is a known cancer gene.FEV
FEV any mutation
2This gene is a known cancer gene.FGFR1
FGFR1 any mutation
2This gene is a known cancer gene.FGFR1OP
FGFR1OP any mutation
2This gene is a known cancer gene.FGFR2
FGFR2 any mutation
2This gene is a known cancer gene.FGFR3
FGFR3 any mutation
2This gene is a known cancer gene.FGFR4
FGFR4 any mutation
2This gene is a known cancer gene.FH
FH any mutation
2This gene is a known cancer gene.FHIT
FHIT any mutation
2This gene is a known cancer gene.FIP1L1
FIP1L1 any mutation
2This gene is a known cancer gene.FLCN
FLCN any mutation
2This gene is a known cancer gene.FLI1
FLI1 any mutation
2This gene is a known cancer gene.FLT3
FLT3 any mutation
2This gene is a known cancer gene.FLT4
FLT4 any mutation
2This gene is a known cancer gene.FNBP1
FNBP1 any mutation
2This gene is a known cancer gene.FOXA1
FOXA1 any mutation
2This gene is a known cancer gene.FOXL2
FOXL2 any mutation
2This gene is a known cancer gene.FOXO1
FOXO1 any mutation
2This gene is a known cancer gene.FOXO3
FOXO3 any mutation
2This gene is a known cancer gene.FOXO4
FOXO4 any mutation
2This gene is a known cancer gene.FOXO4
FOXO4 any mutation
2This gene is a known cancer gene.FOXP1
FOXP1 any mutation
2This gene is a known cancer gene.FSTL3
FSTL3 any mutation
2This gene is a known cancer gene.FUBP1
FUBP1 any mutation
2This gene is a known cancer gene.FUS
FUS any mutation
2This gene is a known cancer gene.GAS7
GAS7 any mutation
2This gene is a known cancer gene.GATA1
GATA1 any mutation
2This gene is a known cancer gene.GATA2
GATA2 any mutation
2This gene is a known cancer gene.GATA3
GATA3 any mutation
2This gene is a known cancer gene.GMPS
GMPS any mutation
2This gene is a known cancer gene.GNA11
GNA11 any mutation
2This gene is a known cancer gene.GNAQ
GNAQ any mutation
2This gene is a known cancer gene.GNAS
GNAS any mutation
2This gene is a known cancer gene.GOLGA5
GOLGA5 any mutation
2This gene is a known cancer gene.GOPC
GOPC any mutation
2This gene is a known cancer gene.GPC3
GPC3 any mutation
2This gene is a known cancer gene.GPHN
GPHN any mutation
2This gene is a known cancer gene.GRIN2A
GRIN2A any mutation
2This gene is a known cancer gene.H3F3A
H3F3A any mutation
2This gene is a known cancer gene.H3F3B
H3F3B any mutation
2This gene is a known cancer gene.HERPUD1
HERPUD1 any mutation
2This gene is a known cancer gene.HEY1
HEY1 any mutation
2This gene is a known cancer gene.HIP1
HIP1 any mutation
2This gene is a known cancer gene.HIST1H3B
HIST1H3B any mutation
2This gene is a known cancer gene.HIST1H4I
HIST1H4I any mutation
2This gene is a known cancer gene.HLA-A
HLA-A any mutation
2This gene is a known cancer gene.HLF
HLF any mutation
2This gene is a known cancer gene.HMGA1
HMGA1 any mutation
2This gene is a known cancer gene.HMGA2
HMGA2 any mutation
2This gene is a known cancer gene.HNF1A
HNF1A any mutation
2This gene is a known cancer gene.HNRNPA2B1
HNRNPA2B1 any mutation
2This gene is a known cancer gene.HOOK3
HOOK3 any mutation
2This gene is a known cancer gene.HOXA11
HOXA11 any mutation
2This gene is a known cancer gene.HOXA13
HOXA13 any mutation
2This gene is a known cancer gene.HOXA9
HOXA9 any mutation
2This gene is a known cancer gene.HOXC11
HOXC11 any mutation
2This gene is a known cancer gene.HOXC13
HOXC13 any mutation
2This gene is a known cancer gene.HOXD11
HOXD11 any mutation
2This gene is a known cancer gene.HOXD13
HOXD13 any mutation
2This gene is a known cancer gene.HRAS
HRAS any mutation
2This gene is a known cancer gene.HSP90AA1
HSP90AA1 any mutation
2This gene is a known cancer gene.HSP90AB1
HSP90AB1 any mutation
2This gene is a known cancer gene.IDH1
IDH1 any mutation
2This gene is a known cancer gene.IDH2
IDH2 any mutation
2This gene is a known cancer gene.IKBKB
IKBKB any mutation
2This gene is a known cancer gene.IKZF1
IKZF1 any mutation
2This gene is a known cancer gene.IL2
IL2 any mutation
2This gene is a known cancer gene.IL21R
IL21R any mutation
2This gene is a known cancer gene.IL6ST
IL6ST any mutation
2This gene is a known cancer gene.IL7R
IL7R any mutation
2This gene is a known cancer gene.IRF4
IRF4 any mutation
2This gene is a known cancer gene.ITK
ITK any mutation
2This gene is a known cancer gene.JAK1
JAK1 any mutation
2This gene is a known cancer gene.JAK2
JAK2 any mutation
2This gene is a known cancer gene.JAK3
JAK3 any mutation
2This gene is a known cancer gene.JAZF1
JAZF1 any mutation
2This gene is a known cancer gene.JUN
JUN any mutation
2This gene is a known cancer gene.KAT6A
KAT6A any mutation
2This gene is a known cancer gene.KAT6B
KAT6B any mutation
2This gene is a known cancer gene.KCNJ5
KCNJ5 any mutation
2This gene is a known cancer gene.KDM5A
KDM5A any mutation
2This gene is a known cancer gene.KDM5C
KDM5C any mutation
2This gene is a known cancer gene.KDM6A
KDM6A any mutation
2This gene is a known cancer gene.KDR
KDR any mutation
2This gene is a known cancer gene.KDSR
KDSR any mutation
2This gene is a known cancer gene.KIAA1549
KIAA1549 any mutation
2This gene is a known cancer gene.KIAA1598
KIAA1598 any mutation
2This gene is a known cancer gene.KIF5B
KIF5B any mutation
2This gene is a known cancer gene.KIT
KIT any mutation
2This gene is a known cancer gene.KLF4
KLF4 any mutation
2This gene is a known cancer gene.KLF6
KLF6 any mutation
2This gene is a known cancer gene.KLK2
KLK2 any mutation
2This gene is a known cancer gene.KMT2A
KMT2A any mutation
2This gene is a known cancer gene.KMT2C
KMT2C any mutation
2This gene is a known cancer gene.KMT2D
KMT2D any mutation
2This gene is a known cancer gene.KRAS
KRAS any mutation
2This gene is a known cancer gene.KTN1
KTN1 any mutation
2This gene is a known cancer gene.LASP1
LASP1 any mutation
2This gene is a known cancer gene.LCK
LCK any mutation
2This gene is a known cancer gene.LCP1
LCP1 any mutation
2This gene is a known cancer gene.LHFP
LHFP any mutation
2This gene is a known cancer gene.LIFR
LIFR any mutation
2This gene is a known cancer gene.LMNA
LMNA any mutation
2This gene is a known cancer gene.LMO1
LMO1 any mutation
2This gene is a known cancer gene.LMO2
LMO2 any mutation
2This gene is a known cancer gene.LPP
LPP any mutation
2This gene is a known cancer gene.LRIG3
LRIG3 any mutation
2This gene is a known cancer gene.LSM14A
LSM14A any mutation
2This gene is a known cancer gene.LYL1
LYL1 any mutation
2This gene is a known cancer gene.LZTR1
LZTR1 any mutation
2This gene is a known cancer gene.MAF
MAF any mutation
2This gene is a known cancer gene.MAFB
MAFB any mutation
2This gene is a known cancer gene.MALT1
MALT1 any mutation
2This gene is a known cancer gene.MAML2
MAML2 any mutation
2This gene is a known cancer gene.MAP2K1
MAP2K1 any mutation
2This gene is a known cancer gene.MAP2K2
MAP2K2 any mutation
2This gene is a known cancer gene.MAP2K4
MAP2K4 any mutation
2This gene is a known cancer gene.MAP3K1
MAP3K1 any mutation
2This gene is a known cancer gene.MAP3K13
MAP3K13 any mutation
2This gene is a known cancer gene.MAX
MAX any mutation
2This gene is a known cancer gene.MDM2
MDM2 any mutation
2This gene is a known cancer gene.MDM4
MDM4 any mutation
2This gene is a known cancer gene.MDS2
MDS2 any mutation
2This gene is a known cancer gene.MECOM
MECOM any mutation
2This gene is a known cancer gene.MED12
MED12 any mutation
2This gene is a known cancer gene.MEN1
MEN1 any mutation
2This gene is a known cancer gene.MET
MET any mutation
2This gene is a known cancer gene.MITF
MITF any mutation
2This gene is a known cancer gene.MKL1
MKL1 any mutation
2This gene is a known cancer gene.MLF1
MLF1 any mutation
2This gene is a known cancer gene.MLH1
MLH1 any mutation
2This gene is a known cancer gene.MLLT1
MLLT1 any mutation
2This gene is a known cancer gene.MLLT10
MLLT10 any mutation
2This gene is a known cancer gene.MLLT11
MLLT11 any mutation
2This gene is a known cancer gene.MLLT3
MLLT3 any mutation
2This gene is a known cancer gene.MLLT4
MLLT4 any mutation
2This gene is a known cancer gene.MLLT6
MLLT6 any mutation
2This gene is a known cancer gene.MN1
MN1 any mutation
2This gene is a known cancer gene.MNX1
MNX1 any mutation
2This gene is a known cancer gene.MPL
MPL any mutation
2This gene is a known cancer gene.MSH2
MSH2 any mutation
2This gene is a known cancer gene.MSH6
MSH6 any mutation
2This gene is a known cancer gene.MSI2
MSI2 any mutation
2This gene is a known cancer gene.MSN
MSN any mutation
2This gene is a known cancer gene.MTCP1
MTCP1 any mutation
2This gene is a known cancer gene.MUC1
MUC1 any mutation
2This gene is a known cancer gene.MUTYH
MUTYH any mutation
2This gene is a known cancer gene.MYB
MYB any mutation
2This gene is a known cancer gene.MYC
MYC any mutation
2This gene is a known cancer gene.MYCL
MYCL any mutation
2This gene is a known cancer gene.MYCN
MYCN any mutation
2This gene is a known cancer gene.MYD88
MYD88 any mutation
2This gene is a known cancer gene.MYH11
MYH11 any mutation
2This gene is a known cancer gene.MYH9
MYH9 any mutation
2This gene is a known cancer gene.MYO5A
MYO5A any mutation
2This gene is a known cancer gene.MYOD1
MYOD1 any mutation
2This gene is a known cancer gene.NAB2
NAB2 any mutation
2This gene is a known cancer gene.NACA
NACA any mutation
2This gene is a known cancer gene.NBN
NBN any mutation
2This gene is a known cancer gene.NCKIPSD
NCKIPSD any mutation
2This gene is a known cancer gene.NCOA1
NCOA1 any mutation
2This gene is a known cancer gene.NCOA2
NCOA2 any mutation
2This gene is a known cancer gene.NCOA4
NCOA4 any mutation
2This gene is a known cancer gene.NCOR1
NCOR1 any mutation
2This gene is a known cancer gene.NDRG1
NDRG1 any mutation
2This gene is a known cancer gene.NF1
NF1 any mutation
2This gene is a known cancer gene.NF2
NF2 any mutation
2This gene is a known cancer gene.NFATC2
NFATC2 any mutation
2This gene is a known cancer gene.NFE2L2
NFE2L2 any mutation
2This gene is a known cancer gene.NFIB
NFIB any mutation
2This gene is a known cancer gene.NFKB2
NFKB2 any mutation
2This gene is a known cancer gene.NFKBIE
NFKBIE any mutation
2This gene is a known cancer gene.NIN
NIN any mutation
2This gene is a known cancer gene.NKX2-1
NKX2-1 any mutation
2This gene is a known cancer gene.NONO
NONO any mutation
2This gene is a known cancer gene.NOTCH1
NOTCH1 any mutation
2This gene is a known cancer gene.NOTCH2
NOTCH2 any mutation
2This gene is a known cancer gene.NOTCH3
NOTCH3 any mutation
2This gene is a known cancer gene.NPM1
NPM1 any mutation
2This gene is a known cancer gene.NR4A3
NR4A3 any mutation
2This gene is a known cancer gene.NRAS
NRAS any mutation
2This gene is a known cancer gene.NRG1
NRG1 any mutation
2This gene is a known cancer gene.NSD1
NSD1 any mutation
2This gene is a known cancer gene.NT5C2
NT5C2 any mutation
2This gene is a known cancer gene.NTRK1
NTRK1 any mutation
2This gene is a known cancer gene.NTRK3
NTRK3 any mutation
2This gene is a known cancer gene.NUMA1
NUMA1 any mutation
2This gene is a known cancer gene.NUP214
NUP214 any mutation
2This gene is a known cancer gene.NUP98
NUP98 any mutation
2This gene is a known cancer gene.NUTM1
NUTM1 any mutation
2This gene is a known cancer gene.NUTM2A
NUTM2A any mutation
2This gene is a known cancer gene.NUTM2B
NUTM2B any mutation
2This gene is a known cancer gene.OLIG2
OLIG2 any mutation
2This gene is a known cancer gene.OMD
OMD any mutation
2This gene is a known cancer gene.P2RY8
P2RY8 any mutation
2This gene is a known cancer gene.PAFAH1B2
PAFAH1B2 any mutation
2This gene is a known cancer gene.PALB2
PALB2 any mutation
2This gene is a known cancer gene.PAX3
PAX3 any mutation
2This gene is a known cancer gene.PAX5
PAX5 any mutation
2This gene is a known cancer gene.PAX7
PAX7 any mutation
2This gene is a known cancer gene.PAX8
PAX8 any mutation
2This gene is a known cancer gene.PBRM1
PBRM1 any mutation
2This gene is a known cancer gene.PBX1
PBX1 any mutation
2This gene is a known cancer gene.PCM1
PCM1 any mutation
2This gene is a known cancer gene.PCSK7
PCSK7 any mutation
2This gene is a known cancer gene.PDCD1LG2
PDCD1LG2 any mutation
2This gene is a known cancer gene.PDE4DIP
PDE4DIP any mutation
2This gene is a known cancer gene.PDGFB
PDGFB any mutation
2This gene is a known cancer gene.PDGFRA
PDGFRA any mutation
2This gene is a known cancer gene.PDGFRB
PDGFRB any mutation
2This gene is a known cancer gene.PER1
PER1 any mutation
2This gene is a known cancer gene.PHF6
PHF6 any mutation
2This gene is a known cancer gene.PHOX2B
PHOX2B any mutation
2This gene is a known cancer gene.PICALM
PICALM any mutation
2This gene is a known cancer gene.PIK3CA
PIK3CA any mutation
2This gene is a known cancer gene.PIK3R1
PIK3R1 any mutation
2This gene is a known cancer gene.PIM1
PIM1 any mutation
2This gene is a known cancer gene.PLAG1
PLAG1 any mutation
2This gene is a known cancer gene.PLCG1
PLCG1 any mutation
2This gene is a known cancer gene.PML
PML any mutation
2This gene is a known cancer gene.PMS1
PMS1 any mutation
2This gene is a known cancer gene.PMS2
PMS2 any mutation
2This gene is a known cancer gene.POLE
POLE any mutation
2This gene is a known cancer gene.POT1
POT1 any mutation
2This gene is a known cancer gene.POU2AF1
POU2AF1 any mutation
2This gene is a known cancer gene.POU5F1
POU5F1 any mutation
2This gene is a known cancer gene.PPARG
PPARG any mutation
2This gene is a known cancer gene.PPFIBP1
PPFIBP1 any mutation
2This gene is a known cancer gene.PPP2R1A
PPP2R1A any mutation
2This gene is a known cancer gene.PPP6C
PPP6C any mutation
2This gene is a known cancer gene.PRCC
PRCC any mutation
2This gene is a known cancer gene.PRDM1
PRDM1 any mutation
2This gene is a known cancer gene.PRDM16
PRDM16 any mutation
2This gene is a known cancer gene.PRF1
PRF1 any mutation
2This gene is a known cancer gene.PRKAR1A
PRKAR1A any mutation
2This gene is a known cancer gene.PRRX1
PRRX1 any mutation
2This gene is a known cancer gene.PSIP1
PSIP1 any mutation
2This gene is a known cancer gene.PTCH1
PTCH1 any mutation
2This gene is a known cancer gene.PTEN
PTEN any mutation
2This gene is a known cancer gene.PTPN11
PTPN11 any mutation
2This gene is a known cancer gene.PTPRB
PTPRB any mutation
2This gene is a known cancer gene.PTPRC
PTPRC any mutation
2This gene is a known cancer gene.PTPRK
PTPRK any mutation
2This gene is a known cancer gene.PWWP2A
PWWP2A any mutation
2This gene is a known cancer gene.RABEP1
RABEP1 any mutation
2This gene is a known cancer gene.RAC1
RAC1 any mutation
2This gene is a known cancer gene.RAD21
RAD21 any mutation
2This gene is a known cancer gene.RAD51B
RAD51B any mutation
2This gene is a known cancer gene.RAF1
RAF1 any mutation
2This gene is a known cancer gene.RALGDS
RALGDS any mutation
2This gene is a known cancer gene.RANBP17
RANBP17 any mutation
2This gene is a known cancer gene.RANBP2
RANBP2 any mutation
2This gene is a known cancer gene.RAP1GDS1
RAP1GDS1 any mutation
2This gene is a known cancer gene.RARA
RARA any mutation
2This gene is a known cancer gene.RB1
RB1 any mutation
2This gene is a known cancer gene.RBM15
RBM15 any mutation
2This gene is a known cancer gene.RECQL4
RECQL4 any mutation
2This gene is a known cancer gene.REL
REL any mutation
2This gene is a known cancer gene.RET
RET any mutation
2This gene is a known cancer gene.RHOA
RHOA any mutation
2This gene is a known cancer gene.RHOH
RHOH any mutation
2This gene is a known cancer gene.RMI2
RMI2 any mutation
2This gene is a known cancer gene.RNF213
RNF213 any mutation
2This gene is a known cancer gene.RNF43
RNF43 any mutation
2This gene is a known cancer gene.ROS1
ROS1 any mutation
2This gene is a known cancer gene.RPL10
RPL10 any mutation
2This gene is a known cancer gene.RPL22
RPL22 any mutation
2This gene is a known cancer gene.RPL5
RPL5 any mutation
2This gene is a known cancer gene.RPN1
RPN1 any mutation
2This gene is a known cancer gene.RSPO2
RSPO2 any mutation
2This gene is a known cancer gene.RSPO3
RSPO3 any mutation
2This gene is a known cancer gene.SNX29
SNX29 any mutation
2This gene is a known cancer gene.RUNX1
RUNX1 any mutation
2This gene is a known cancer gene.RUNX1T1
RUNX1T1 any mutation
2This gene is a known cancer gene.SBDS
SBDS any mutation
2This gene is a known cancer gene.SDC4
SDC4 any mutation
2This gene is a known cancer gene.SDHAF2
SDHAF2 any mutation
2This gene is a known cancer gene.SDHB
SDHB any mutation
2This gene is a known cancer gene.SDHC
SDHC any mutation
2This gene is a known cancer gene.SEPT5
SEPT5 any mutation
2This gene is a known cancer gene.SEPT6
SEPT6 any mutation
2This gene is a known cancer gene.SEPT9
SEPT9 any mutation
2This gene is a known cancer gene.SET
SET any mutation
2This gene is a known cancer gene.SETBP1
SETBP1 any mutation
2This gene is a known cancer gene.SETD2
SETD2 any mutation
2This gene is a known cancer gene.SF3B1
SF3B1 any mutation
2This gene is a known cancer gene.SFPQ
SFPQ any mutation
2This gene is a known cancer gene.SH2B3
SH2B3 any mutation
2This gene is a known cancer gene.SH3GL1
SH3GL1 any mutation
2This gene is a known cancer gene.SLC34A2
SLC34A2 any mutation
2This gene is a known cancer gene.SLC45A3
SLC45A3 any mutation
2This gene is a known cancer gene.SMAD4
SMAD4 any mutation
2This gene is a known cancer gene.SMARCA4
SMARCA4 any mutation
2This gene is a known cancer gene.SMARCB1
SMARCB1 any mutation
2This gene is a known cancer gene.SMARCD1
SMARCD1 any mutation
2This gene is a known cancer gene.SMARCE1
SMARCE1 any mutation
2This gene is a known cancer gene.SMO
SMO any mutation
2This gene is a known cancer gene.SND1
SND1 any mutation
2This gene is a known cancer gene.SOCS1
SOCS1 any mutation
2This gene is a known cancer gene.SOX2
SOX2 any mutation
2This gene is a known cancer gene.SPECC1
SPECC1 any mutation
2This gene is a known cancer gene.SPEN
SPEN any mutation
2This gene is a known cancer gene.SPOP
SPOP any mutation
2This gene is a known cancer gene.SRGAP3
SRGAP3 any mutation
2This gene is a known cancer gene.SRSF2
SRSF2 any mutation
2This gene is a known cancer gene.SRSF3
SRSF3 any mutation
2This gene is a known cancer gene.SS18
SS18 any mutation
2This gene is a known cancer gene.SS18L1
SS18L1 any mutation
2This gene is a known cancer gene.SSX1
SSX1 any mutation
2This gene is a known cancer gene.SSX2
SSX2 any mutation
2This gene is a known cancer gene.SSX4
SSX4 any mutation
2This gene is a known cancer gene.STAG2
STAG2 any mutation
2This gene is a known cancer gene.STAT3
STAT3 any mutation
2This gene is a known cancer gene.STAT5B
STAT5B any mutation
2This gene is a known cancer gene.STAT6
STAT6 any mutation
2This gene is a known cancer gene.STIL
STIL any mutation
2This gene is a known cancer gene.STK11
STK11 any mutation
2This gene is a known cancer gene.STRN
STRN any mutation
2This gene is a known cancer gene.SUFU
SUFU any mutation
2This gene is a known cancer gene.SUZ12
SUZ12 any mutation
2This gene is a known cancer gene.SYK
SYK any mutation
2This gene is a known cancer gene.TAF15
TAF15 any mutation
2This gene is a known cancer gene.TAL1
TAL1 any mutation
2This gene is a known cancer gene.TAL2
TAL2 any mutation
2This gene is a known cancer gene.TBL1XR1
TBL1XR1 any mutation
2This gene is a known cancer gene.TBX3
TBX3 any mutation
2This gene is a known cancer gene.TCEA1
TCEA1 any mutation
2This gene is a known cancer gene.TCF12
TCF12 any mutation
2This gene is a known cancer gene.TCF3
TCF3 any mutation
2This gene is a known cancer gene.TCF7L2
TCF7L2 any mutation
2This gene is a known cancer gene.TCL1A
TCL1A any mutation
2This gene is a known cancer gene.TERT
TERT any mutation
2This gene is a known cancer gene.TET1
TET1 any mutation
2This gene is a known cancer gene.TET2
TET2 any mutation
2This gene is a known cancer gene.TFE3
TFE3 any mutation
2This gene is a known cancer gene.TFEB
TFEB any mutation
2This gene is a known cancer gene.TFG
TFG any mutation
2This gene is a known cancer gene.TFPT
TFPT any mutation
2This gene is a known cancer gene.TFRC
TFRC any mutation
2This gene is a known cancer gene.THRAP3
THRAP3 any mutation
2This gene is a known cancer gene.TLX1
TLX1 any mutation
2This gene is a known cancer gene.TLX3
TLX3 any mutation
2This gene is a known cancer gene.TMPRSS2
TMPRSS2 any mutation
2This gene is a known cancer gene.TNFAIP3
TNFAIP3 any mutation
2This gene is a known cancer gene.TNFRSF14
TNFRSF14 any mutation
2This gene is a known cancer gene.TNFRSF17
TNFRSF17 any mutation
2This gene is a known cancer gene.TOP1
TOP1 any mutation
2This gene is a known cancer gene.TPM3
TPM3 any mutation
2This gene is a known cancer gene.TPM4
TPM4 any mutation
2This gene is a known cancer gene.TPR
TPR any mutation
2This gene is a known cancer gene.TRAF7
TRAF7 any mutation
2This gene is a known cancer gene.TRIM24
TRIM24 any mutation
2This gene is a known cancer gene.TRIM27
TRIM27 any mutation
2This gene is a known cancer gene.TRIM33
TRIM33 any mutation
2This gene is a known cancer gene.TRIP11
TRIP11 any mutation
2This gene is a known cancer gene.TRRAP
TRRAP any mutation
2This gene is a known cancer gene.TSC1
TSC1 any mutation
2This gene is a known cancer gene.TSC2
TSC2 any mutation
2This gene is a known cancer gene.TSHR
TSHR any mutation
2This gene is a known cancer gene.TTL
TTL any mutation
2This gene is a known cancer gene.U2AF1
U2AF1 any mutation
2This gene is a known cancer gene.UBR5
UBR5 any mutation
2This gene is a known cancer gene.USP6
USP6 any mutation
2This gene is a known cancer gene.VHL
VHL any mutation
2This gene is a known cancer gene.VTI1A
VTI1A any mutation
2This gene is a known cancer gene.WAS
WAS any mutation
2This gene is a known cancer gene.WHSC1
WHSC1 any mutation
2This gene is a known cancer gene.WHSC1L1
WHSC1L1 any mutation
2This gene is a known cancer gene.WIF1
WIF1 any mutation
2This gene is a known cancer gene.WRN
WRN any mutation
2This gene is a known cancer gene.WT1
WT1 any mutation
2This gene is a known cancer gene.WWTR1
WWTR1 any mutation
2This gene is a known cancer gene.XPA
XPA any mutation
2This gene is a known cancer gene.XPC
XPC any mutation
2This gene is a known cancer gene.XPO1
XPO1 any mutation
2This gene is a known cancer gene.YWHAE
YWHAE any mutation
2This gene is a known cancer gene.ZBTB16
ZBTB16 any mutation
2This gene is a known cancer gene.ZCCHC8
ZCCHC8 any mutation
2This gene is a known cancer gene.ZMYM2
ZMYM2 any mutation
2This gene is a known cancer gene.PATZ1
PATZ1 any mutation
2This gene is a known cancer gene.ZNF331
ZNF331 any mutation
2This gene is a known cancer gene.ZNF384
ZNF384 any mutation
2This gene is a known cancer gene.ZNF521
ZNF521 any mutation
2This gene is a known cancer gene.ZRSR2
ZRSR2 any mutation
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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