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Interpretations

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Tier 3
APC
Variants
APC E1317Q
APC codon(s) 1307 frameshift
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Adenocarcinoma
Interpretation

APC mutations have been reported in lung squamous cell carcinoma and small-cell lung carcinoma, but rarely in lung adenocarcinoma. However, variants in the APC gene have not been well characterized in lung adenocarcinoma and their clinical significance is unclear. According to ClinVar, this particular variant is a likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/829/).

Last updated: 2019-02-22 18:05:35 UTC
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Tier 3
ATM
Variants
ATM P604S
ATM A1309T
ATM F858L
ATM P2699S
Primary Sites
Lung
Breast
Colon
Rectum
Unknown
Esophagus
Stomach
Tumor Types
Adenocarcinoma
Interpretation

ATM alterations have been reported as germline variants which predispose to inherited cancer syndromes and as somatic (acquired) variants in tumors. ATM is part of many signalling networks, including cell metabolism and growth, oxidative stress, and chromatin remodelling, all of which can affect cancer progression. Although ATM is considered to be a tumour suppressor, ATM signaling may be advantageous to cancer cells in some settings, particularly in resistance to radio- and chemotherapeutic treatment. For this reason, the use of ATM inhibitors in cancer therapy is under exploration.

Last updated: 2019-01-22 18:50:49 UTC
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Tier 2
BRAF
Variants
BRAF V600D
BRAF V600K
BRAF V600R
BRAF V600M
BRAF V600G
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas and may be a potential therapeutic target in some settings. Drug: Vemurafenib, Dabrafenib, Dabrafenib + Trametinib

Last updated: 2018-06-13 18:59:16 UTC
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Tier 2
BRAF
Variants
BRAF G469A
BRAF codon(s) 469 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas. The G469A mutation results in an amino acid substitution at position 469 in BRAF, occurs within the highly conserved motif of the kinase domain. Most mutant BRAF proteins, such as G469A, have increased kinase activity and are transforming in vitro. In preclinical studies, lung cancer cell lines harboring the BRAF G469A mutation were not sensitive to dasatinib

Last updated: 2020-07-24 14:51:34 UTC
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Tier 2
BRAF
Variants
BRAF G464V
BRAF codon(s) 464 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in up to 10% of all NSCLC, more common in adenocarcinomas. The G464V mutation results in an amino acid substitution within the highly conserved motif of the kinase domain. This specific mutation is a low frequency cancer-associated variant classified as an intermediate activity mutant that moderately increases ERK activation and can transform cells. The predictive significance of this mutation needs further study. Clinical correlation is recommended.

Last updated: 2017-02-27 21:13:32 UTC
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Tier 2
BRAF
Variants
BRAF K601E
BRAF codon(s) 601 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas. 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: 2020-07-24 14:51:40 UTC
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Tier 2
CTNNB1
Variants
CTNNB1 S45P
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

CTNNB1 encodes the protein b-catenin, a transcriptional activator involved in the WNT signaling pathway. Somatic gain-of-function mutations in CTNNB1 result in aberrant accumulation of the b-catenin protein and are prevalent in a wide range of solid tumors, including endometrial carcinoma, ovarian carcinoma, hepatocellular carcinoma, and colorectal carcinoma, among others. Genetic alterations in CTNNB1 have been identified in 4% of non-small cell lung cancers. The CTNNB1 S45P mutation is likely oncogenic, but no real progress has been made in targeting oncogenic mutant forms of CTNNB1 in lung cancer. However, CTNNB1 mutation-positive cancers are presumed to be resistant to pharmacologic inhibition of upstream components of the WNT pathway, instead requiring direct inhibition of b-catenin function. In one study pharmacological inhibition of b-catenin suppressed EGFR-L858R/T790M mutated lung tumor and genetic deletion of the b-catenin gene dramatically reduced lung tumor formation in transgenic mice, suggesting that b-catenin plays an essential role in lung tumorigenesis and that targeting the b-catenin pathway may provide novel strategies to prevent lung cancer development or overcome resistance to EGFR TKIs. These results should be interpreted in the clinical context.

Last updated: 2019-01-22 18:31:14 UTC
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Tier 2
CDKN2A
Variants
CDKN2A W110*
CDKN2A Y129*
CDKN2A any frameshift
CDKN2A H83Y
CDKN2A codon(s) 58 frameshift
CDKN2A codon(s) 80 frameshift
CDKN2A D108H
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

Somatic mutations of CDKN2A are present in various tumor types, including, squamous cell carcinoma of the lung, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer. Majority of the CDKN2A mutations span exon 2 and result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Last updated: 2018-06-13 19:01:26 UTC
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Tier 2
CDKN2A
Variants
CDKN2A Y129*
CDKN2A W110*
CDKN2A any frameshift
CDKN2A codon(s) 58 frameshift
CDKN2A codon(s) 80 frameshift
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations of CDKN2A are present in various tumor types, including, squamous cell carcinoma of the larynx, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer, among other cancer types. Majority of the CDKN2A mutations span exon 2 and result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Last updated: 2018-04-19 15:53:50 UTC
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Tier 2
ERBB2
Variants
ERBB2 G776delinsVC
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 (also HER2) is a transmembrane receptor that is a member of the ERBB family of receptor tyrosine kinases. ERBB2 is altered by amplification and/or overexpression in various cancers, most frequently in breast, esophagogastric and endometrial cancers. Somatic mutations in ERBB2 have been identified in a series of tumors including lobular breast, lung adenocarcinoma, and gastric cancers, among others, with recurrent hotspot alterations in both the extracellular and kinase domains. Preclinical and clinical studies have demonstrated that many of these mutations are transforming and sensitive to FDA-approved ERBB targeted therapies, including trastuzumab, ado-trastuzumab emtansine, lapatinib, and pertuzumab. The ERBB2 p.G776delinsVC variant is one of the in-frame insertions in exon 20 of ERBB2 that have been described in lung adenocarcinoma. Overall, in-frame ERRB2 insertions in exon 20 have been reported in approximately 6% of cases of lung adenocarcinoma which are negative for EGFR, KRAS, ALK alterations and these variants are more frequent in patients who were never-smokers. In vitro studies have shown that this specific variant is associated with constitutive kinase activation and is associated with sensitivity to some ERBB2 inhibitors and therefore, it may represent a targetable mutation in some clinical settings. Please refer to clinicaltrials.gov for additional information. Recommend correlation with other clinical and laboratory findings.

Last updated: 2019-01-22 18:40:47 UTC
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Tier 1
EGFR
Variants
EGFR L858R
EGFR exon(s) 18, 19, 20, 21 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to EGFR inhibitors. Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions , EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M.

Last updated: 2021-10-19 15:34:57 UTC
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Tier 1
EGFR
Variants
EGFR E746_A750delinsI
EGFR exon(s) 19 deletion
EGFR E746_A750del
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions , EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. Erlotinib Afatinib Gefitinib Osimertinib

Last updated: 2018-04-06 14:53:53 UTC
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Tier 1
EGFR
Variants
EGFR codon(s) 790 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions , EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M.

Last updated: 2017-04-10 19:21:46 UTC
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Tier 3
EGFR
Variants
EGFR exon(s) 20 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

EGFR D770N in Exon 20 has been reported. The significance is unknown.

Last updated: 2015-12-09 20:15:45 UTC
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Tier 1
EGFR
Variants
EGFR exon(s) 20 insertion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

EGFR exon 20 insertion testing identifies a distinct subset of lung adenocarcinomas, accounting for at least 9% of all EGFR-mutated cases and by molecular modeling, are predicted to have potentially different effects on erlotinib binding. Studies show that in contrast to the more classic activating EGFR mutations, these insertions have been associated with de novo resistance to approved EGFR-TKIs (erlotinib and gefitinib). In a recent study, patients with advanced lung adenocarcinoma harboring exon 20 insertions demonstrated no response or partial response following treatment with TK inhibitors. Exon 20 insertion mutations in EGFR may be associated with clinical trials (https://clinicaltrials.gov/).

Last updated: 2018-03-06 17:56:01 UTC
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Tier 1
EGFR
Variants
EGFR H773L
EGFR V774M
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

EGFR exon 20 insertion testing identifies a distinct subset of lung adenocarcinomas, accounting for at least 9% of all EGFR-mutated cases and by molecular modeling, are predicted to have potentially different effects on erlotinib binding. Studies show that in contrast to the more classic activating EGFR mutations, these insertions have been associated with de novo resistance to approved EGFR-TKIs (erlotinib and gefitinib). In a recent study, patients with advanced lung adenocarcinoma harboring exon 20 insertions demonstrated no response or partial response following treatment with TK inhibitors. This rare complex mutation (p.H773_V774delinsLM) results in the H773L/V774 mutation compound at the same allele, potentially weakening the inactive state and leading to constitutional activation of EGFR. A recent clinical report suggests this mutation is insensitive to the reversible TKI gefitinib, but can be suppressed by the irreversible TKI osimertinib, leading to sustained disease control (Yang et al., Lung Cancer, 121:1-4, 2018). Exon 20 insertion mutations in EGFR may be associated with clinical trials (https://clinicaltrials.gov/).

Last updated: 2019-01-22 18:50:26 UTC
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Tier 1
EGFR
Variants
EGFR D761N
EGFR D761Y
EGFR codon(s) 761 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The EGFR D761 mutation is associated with acquired resistance to EGFR-TKIs (Balak et al., 2006). The functional significance of this alteration is being investigated.

Last updated: 2015-12-09 20:16:10 UTC
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Tier 3
EGFR
Variants
EGFR G863D
Primary Sites
Lung
Stomach
Tumor Types
Adenocarcinoma
Interpretation

A low frequency mutation detected in lung and gastric cancer. Functional significance of this alteration has not yet been described. However, a single NSCLC patient with this mutation in a clinical trial shows partial response to gefitinb therapy

Last updated: 2015-12-09 20:16:16 UTC
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Tier 1
EGFR
Variants
EGFR L861Q
EGFR codon(s) 861 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions , EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The L861Q mutation is one of the less common mutations which is an activating mutation that is believed to confer sensitivity to the targeted EGFR tyrosine kinase inhibitors although this mutation may confer reduced response to these inhibitors compared to the more common mutations.

Last updated: 2018-04-06 15:03:01 UTC
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Tier 1
EGFR
Variants
EGFR E709K
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Compound (dual) mutations in EGFR have been previously reported in lung adenocarcinoma and typically include a strong activating mutation combined with a weaker activating mutation. These cases appear to respond well to the EGFR targetted therapies if they include mutations that are known to provide sensitivity to EGFR inhibitor therapies. L858R is a well known activating mutation in exon 21 that is associated with sensitivity to EGFR inhibitors. In vitro functional characterization of mutations at E709 have also been reported to be activivating mutations that are also associated with sensitivity to EGFR inhibitors in vitro. Mutations in E709 often occur together with other muations in EGFR including the L858R mutation.

Last updated: 2015-12-09 20:16:31 UTC
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Tier 3
FBXW7
Variants
FBXW7 R479Q
FBXW7 D761N
Primary Sites
Breast
Lung
Colon
Stomach
Rectum
Endometrium
Tumor Types
Adenocarcinoma
Interpretation

FBXW7 is a tumor suppressor gene that is mutated in several tumors including colorectal, liver, bladders and ovarian cancers. It is also mutated in endometrial and head and neck squamous cancers. Preclinical data suggest that FBXW7 mutations may sensitize cells to mTOR inhibitors.

Last updated: 2016-06-05 02:49:13 UTC
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Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Lung
Kidney
Tumor Types
Adenocarcinoma
Interpretation

This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The R201 mutation in GNAS was thought to both drive tumor progression and confer exceptional chemo-sensitivity in a patient with an unclassified kidney cancer.

Last updated: 2019-04-30 14:30:45 UTC
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Tier 2
IDH1
Variants
IDH1 R132L
IDH1 codon(s) 132 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

IDH-mutant tumors have aberrant production and accumulation of the oncometabolite 2-hydroxyglutarate (2-HG), which may play a pivotal oncogenic role in several malignancies including AML, central nervous system and billary tract. Strikingly, IDH1 mutations were rarely detected in the other solid tumor types. Reports have shown that melanoma cases can harbor IDH1 mutations. An IDH1 R132C mutation was found in a melanoma metastasis to the lung. IDH1 mutations were found to coexist with BRAF or KIT mutations, and all were detected in metastatic lesions. Coexistence of IDH1 R132C mutation with KRAS has also been reported in a single case of lung adenocarcinoma (Sequist et al., Ann Oncol., 22:2616-2624, 2011). The clinical significance of this mutation with regards to response to anti-IDH1 therapy in lung cancer is unknown.

Last updated: 2020-07-24 14:51:58 UTC
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Tier 2
KRAS
Variants
KRAS G12A
KRAS G12V
KRAS G12D
KRAS G12C
KRAS G12S
KRAS G12R
KRAS G13D
KRAS G13C
KRAS G13S
KRAS G13R
KRAS Q61H
KRAS Q61L
KRAS Q61K
KRAS Q61R
KRAS codon(s) 12, 13, 61, 117, 146 any
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

KRAS belongs to the RAS family of oncogenes. In lung, KRAS mutations are detected in approximately 20% to 25% of adenocarcinoma and less than 10% of squamous cell carcinoma which demonstrate a minor glandular component. KRAS mutations in NSCLC most often occur in codons 12 or 13 and with a lower frequency in codon 61. Mutations in KRAS are usually mutually exclusive with other oncogenic driver aberrations including EGFR, BRAF, HER2 mutations and ALK and ROS1 rearrangements. Contrary to most other oncogenic driver mutations, KRAS is more often found in smokers and is detected at lower frequency in East Asian patient cohorts. The prognostic as well as predictive role of KRAS mutations continues to be studied. Although various attempts inhibiting KRAS have been made, there is no established therapy specific for this large patient subpopulation. Recommend correlation with other clinical and lab findings.

Last updated: 2016-10-05 22:34:23 UTC
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Tier 2
KRAS
Variants
KRAS G12A
KRAS G12V
KRAS G12D
KRAS G12C
KRAS G12S
KRAS G12R
KRAS G13D
KRAS G13C
KRAS G13S
KRAS G13R
KRAS Q61H
KRAS Q61L
KRAS Q61K
KRAS Q61R
KRAS codon(s) 12, 13, 61, 117, 146 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Pleomorphic Carcinoma
Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

KRAS belongs to the RAS family of oncogenes. KRAS mutations are detected in approximately 20% to 25% of lung adenocarcinoma. Contrary to most other oncogenic driver mutations, KRAS is more often found in smokers and is detected at lower frequency in East Asian patient cohorts. Mutations in KRAS are usually mutually exclusive with other oncogenic driver aberrations including EGFR, BRAF, HER2 mutations and ALK and ROS1 rearrangements. KRAS mutations in NSCLC most often occur in codons 12 or 13 and with a lower frequency in codon 61. The prognostic as well as predictive role of KRAS mutations continues to be studied. Although various attempts inhibiting KRAS have been made, there is no established therapy specific for this large patient subpopulation.

Last updated: 2021-12-30 20:04:08 UTC
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Tier 2
MET
Variants
MET H1112Y
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Nonsynonymous mutations in the MET gene have been described in non-small cell lung cancer (NSCLC) and (small cell lung cancer) SCLC. Increased expression of MET protein was associated with improved progression free survival and overall survival in patients who received MetMAb (an anti-MET antibody) and erlotinib. The activity of MET inhibitors in NSCLC or SCLC tumors with non-kinase domain MET mutations is not yet known.

Last updated: 2019-02-14 20:04:39 UTC
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Tier 3
MET
Variants
MET E168D
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The MET p. E168D mutation has been reported in various tumors including lung cancer according to the COSMIC database. Some studies indicate that this mutation may be associated with higher affinity for ligand, HGF. In vitro studies in cell lines with cells expressing MET p.E168D may show increased sensitivity to MET inhibitor. According to ClinVar, this particular variant is a likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/41627/). The clinical significance of this variant remains to be fully elucidated.

Last updated: 2019-02-22 18:05:13 UTC
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Tier 3
MET
Variants
MET T1010I
Primary Sites
Lung
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

The MET p.T1010I variant has been reported in some tumor types and also has been reported as a germline variant present in less than 1% of the general population. Its role in tumor development and progression continues to be studied. The utility of MET pathway inhibitors also continues to be explored.

Last updated: 2015-12-09 20:20:41 UTC
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Tier 3
MLH1
Variants
MLH1 V384D
Primary Sites
Lung
Colon
Rectum
Tumor Types
Adenocarcinoma
Carcinoma
Interpretation

The MLH1 V384D polymorphism has been associated with cancer risk in some tumor types. In addition, according to one report, MLH1 V384D polymorphism has been reported to be associated with primary resistance to EGFR-TKIs in patients with EGFR L858R-positive lung adenocarcinoma and may potentially be a novel biomarker to guide treatment decisions for those patients. The effect of this MLH1 polymorphism when present with other EGFR-TKI sensitizing mutations such as Exon 19 deletions in EGFR remains to be clarified. Some studies have shown that patients carrying the MLH1 V384D variant have an increased risk of the development of microsatellite-instable as well as -stable colorectal cancer. This variant has an allele frequency of 4% in the East Asian population. Of note, this variant is reported as a benign germline variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/41632/). Clinical correlation is recommended.

Last updated: 2018-05-09 21:13:25 UTC
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Tier 2
NRAS
Variants
NRAS G12A
NRAS G12V
NRAS G12D
NRAS G12C
NRAS G12S
NRAS G12R
NRAS G13D
NRAS G13C
NRAS G13S
NRAS G13R
NRAS G13A
NRAS G13V
NRAS Q61H
NRAS Q61L
NRAS Q61K
NRAS Q61R
NRAS codon(s) 12, 13, 61, 146 any
NRAS T58I
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

NRAS is a member of the RAS family of oncogenes and activating mutations of NRAS have been reported in about 1% of NSCLCs and are mostly exclusive of other known driver mutations. The Q61 codon is most frequently affected. In preclinical studies, cell lines harboring NRAS mutation(s) showed variable sensitivities to pathway inhibitors.

Last updated: 2019-01-22 18:51:07 UTC
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Tier 2
PIK3CA
Variants
PIK3CA exon(s) 10, 20, 21 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Interpretation

Somatic mutations in PIK3CA have been found in 1–3% of NSCLC. These mutations typically occur within specific hotspot regions. PIK3CA mutations appear to be more common in squamous cell histology compared to adenocarcinoma and can occur with or without a history of smoking. PIK3CA mutations can co-occur with EGFR mutations and PIK3CA mutations have been detected in a small percentage (approximately 5%) of EGFR-mutated lung cancers with acquired resistance to EGFR TKI therapy.

Last updated: 2016-02-11 21:44:04 UTC
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Tier 2
PTEN
Variants
PTEN any frameshift
PTEN any deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in PTEN have been found in 4-8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored.

Last updated: 2020-07-24 14:52:22 UTC
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Tier 3
SMAD4
Variants
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Homozygous mutations causing SMAD4 loss are found in approximately 3% of lung adenocarcinomas and squamous cell carcinomas cases. SMAD4 loss tends to act synergistically with TP53 and KRAS mutations to increase lymphatic metastasis and tumor size. Experimental work in a mouse model has demonstrated increased susceptibility to DNA topoisomerase inhibitors with homozygous SMAD4 loss of function mutation coupled with KRAS G12D activating mutations.

Last updated: 2016-04-21 21:05:22 UTC
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Tier 1
EGFR
Variants
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Based on reports in the literature, EGFR and KRAS mutations can occasionally coexist in the same bronchial-pulmonary carcinoma. The biological implications of this coexistence are still poorly understood mainly because these cases are not frequent. It is therefore necessary to study larger series of cases with the two mutations to better understand the biological, clinical and therapeutic implications. Patients with coexisting EGFR and KRAS variants may have a partial response to EGFR TKI.

Last updated: 2015-12-09 21:32:55 UTC
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Tier 3
JAK3
Variants
JAK3 V722I
Primary Sites
Lung
Thyroid
Colon
Pancreas
Bladder
Tumor Types
Adenocarcinoma
Papillary Carcinoma
Urothelial Carcinoma
Interpretation

JAK3 is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway. The JAK3 V722I variant has been reported as a likely benign germline polymorphism (ClinVar, https://preview.ncbi.nlm.nih.gov/clinvar/variation/134573/) and also as an acquired somatic variant in some tumors. It has been reported to be an activating variant of JAK3 and initial in vitro studies suggest that this variant may play a role in the regulation of PD-L1 expression. Also, V722I resulted in constitutive phosphorylation of Jak3 and was transforming in cell culture. Clinical correlation is recommended.

Last updated: 2019-01-22 19:22:47 UTC
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Tier 2
TP53
Variants
TP53 G245C
TP53 E204*
Primary Sites
Lung
Pancreas
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
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: 2016-06-07 02:09:42 UTC
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Tier 1
ERBB2
Variants
ERBB2 S310F
ERBB2 S310Y
ERBB2 R157W
Primary Sites
Breast
Lung
Bladder
Ureter
Kidney
Tumor Types
Adenocarcinoma
Urothelial Carcinoma
Interpretation

Activating extracellular domain ERBB2 mutations (S310F, S310Y, R157W) have been identified in urothelial carcinoma (enriched in micropapillary variant) and adenocarcinomas of breast and lung. These activating mutations may have therapeutic potential in some clinical settings.

Last updated: 2017-01-20 03:28:23 UTC
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Tier 2
ERBB2
Variants
ERBB2 exon(s) 20 insertion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 exon 20 insertions occur within exon 20, which encodes part of the kinase domain. These mutations occur with a frequency of approximately 2--4% of all NSCLC. Overall, in-frame ERRB2 insertions in exon 20 have been reported in approximately 6% of cases of lung adenocarcinoma which are negative for EGFR, KRAS, ALK alterations and these variants are more frequent in patients who were never-smokers. Mutations in ERRB2 do not have an independent prognostic value in lung adenocarcinoma, according to a recent study. In vitro studies have shown that this specific variant is associated with constitutive kinase activation and is associated with sensitivity to some ERBB2 inhibitors and therefore, it may represent a targetable mutation in some clinical settings. Please refer to clinicaltrials.gov for additional information. Recommend correlation with other clinical and laboratory findings.

Last updated: 2018-06-14 19:38:36 UTC
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Tier 2
KRAS
Variants
KRAS Q22K
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

KRAS belongs to the RAS family of oncogenes. KRAS mutations are detected in approximately 20% to 25% of lung adenocarcinoma. Contrary to most other oncogenic driver mutations, KRAS is more often found in smokers and is detected at lower frequency in East Asian patient cohorts. Mutations in KRAS are usually mutually exclusive with other oncogenic driver aberrations including EGFR, BRAF, HER2 mutations and ALK and ROS1 rearrangements. KRAS mutations in NSCLC most often occur in codons 12 or 13 and with a lower frequency in codon 61. KRAS Q22K mutation consists of a C to A transversion substituting lysine for glutamine. This KRAS variant, at codon 22, is exceedingly rare in lung cancers, and also only rarely been described in very few other cancers. Mutations at this site have also been reported as germline mutations in Noonan syndrome. The preclinical studies have shown that cell lines expressing the KRAS Q22K mutation possess high in vivo oncogenic potential, higher than that of wild-type KRAS. The prognostic as well as predictive role of this and other KRAS mutations continues to be studied. Although various attempts inhibiting KRAS have been made, there is no established therapy specific for this large patient subpopulation.

Last updated: 2016-02-11 22:26:32 UTC
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Tier 2
GNAS
Variants
GNAS Q227L
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The frequency of GNAS mutation in non-small cell carcinoma of the lung cases is relatively low (<5%) and its significance remains to be fully elucidated.

Last updated: 2016-02-12 20:40:08 UTC
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Tier 2
NKX2-1
Variants
NKX2-1 copy number gain
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

NKX2-1 is a lineage-specific transcription factor that is frequently focally amplified in lung adenocarcinoma (PMID 17982442). NKX2-1 amplification supports a diagnosis of lung adenocarcinoma, as this event occurs rarely in other tumor types, including in lung squamous or small-cell lung cancer. NKX2-1 has been proposed to be an oncogenic "survival factor" for lung adenocarcinomas (PMID 23763999) though studies have also demonstrated tumor suppressor effects for this gene (PMID 21471965). There is no known relationship between NKX2-1 amplification and drug sensitivity.

Last updated: 2016-03-17 01:56:18 UTC
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Tier 1
EGFR
Variants
EGFR S768I
EGFR G724S
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR tyrosine kinase inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. EGFR S768I (exon 20) occurs in 1–2% of EGFR mutant lung cancers and is often coincident with other EGFR mutations. EGFR S768I is reported to be sensitive to EGFR-TKIs. EGFR G724S (exon 18) is very rare and its significance is unknown.

Last updated: 2016-05-05 13:32:06 UTC
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Tier 1
EGFR
Variants
EGFR K745_E746insIPVAIK
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Pleomorphic Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. EGFR exon 19 in-frame insertions have been described in about 1% of EGFR-mutant lung cancers. They appear to be more common in nonsmoking women. These exon 19 insertions appear to be sensitizing mutations and have been shown to respond to TKIs in some studies.

Last updated: 2016-05-18 23:02:30 UTC
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Tier 2
STK11
Variants
STK11 codon(s) 60-1 deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The STK11 is a tumor suppressor gene located on chromosome 19p13.3. The encoded protein has serine-threonine kinase activity. Functionally, STK11 regulates cellular energy metabolism and cell polarity by activating AMP-activated protein kinase (AMPK) and other members of the AMPK family. Germline mutations in the STK11 gene are responsible for Peutz-Jeghers syndrome, an autosomal dominant disorder with variable clinical phenotype and increased risk of some cancers. Somatic mutations of STK11 gene are reported in several tumors including lung cancers. Studies have demonstrated STK11 inactivation is a common event and may be involved in the development of sporadic lung adenocarcinoma. Inactivation mutations of STK11 are found in 30% of lung cancer cell lines and in 15% of primary lung adenocarcinomas. Clinical relevance of these alterations and impact on disease progression and patient survival needs to be fully elucidated.

Last updated: 2020-07-24 14:52:46 UTC
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Tier 1
EGFR
Variants
EGFR E709_T710delinsD
EGFR exon(s) 18 indel
EGFR exon(s) 18 deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. EGFR exon 18 mutations account for 3.6% of all the EGFR mutations in lung adenocarcinomas. Of these, G719 mutations account for the majority of them and are sensitive to anti-EGFR inhibitors. Exon 18 deletions are rare (<0.1%) and but they are potentially responsive to anti-EGFR TKIs in some small clinical case studies. Of note, they appeared to be more sensitive to second-generation TKIs, especially afatinib and neratinib, than to first- and third-generation TKIs based on in vitro experiments.

Last updated: 2016-06-01 20:16:47 UTC
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Tier 2
ALK
Variants
ALK F1174L
ALK F1174C
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The anaplastic lymphoma kinase (ALK) has emerged as a potentially relevant biomarker and therapeutic target in a variety of solid and hematologic malignancies. It is a receptor tyrosine kinase (RTK) that is known to be activated either by point mutations or by chromosomal translocations. These genetic alterations act as oncogenic drivers and promote constitutive, ligand-independent activation of this RTK. Approximately 3-7% of non-small cell lung cancers (NSCLC) harbor ALK fusions/rearrangements. This fusion oncogene rearrangement is transforming both in vitro and in vivo and defines a distinct clinicopathologic subset of NSCLC that are highly sensitive to therapy with ALK-targeted inhibitors. While crizotinib is highly active in patients with ALK-positive NSCLC, patients have been shown to invariably develop resistance to this drug. In approximately one-third of resistant cases, tumors can acquire a secondary mutation within the ALK tyrosine kinase domain. ALK F1174 variant is a somatic mutation in the ALK kinase domain and has been detected in neuroblastomas. It has a transforming activity in vitro and in vivo, and may cause resistance to crizotinib as well as second generation ALK inhibitors such as ceritinib.

Last updated: 2020-07-24 14:52:34 UTC
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Tier 2
TSC1
Variants
TSC1 any missense
Primary Sites
Lung
Kidney
Bladder
Tumor Types
Adenocarcinoma
Urothelial Carcinoma
Renal Cell Carcinoma
Clear Cell Renal Cell Carcinoma
Interpretation

Germ line mutations of mutations in either TSC1 or TSC2 are found in 75-90% of cases of tuberous sclerosis complex (TSC), an autosomal dominant tumor syndrome associated with variable clinical phenotype including several hamrtomas and benign tumors. In addition, somatic alterations in these genes may occur in some tumor types. TSC1 and TSC2 both are tumor suppressor genes and their inactivation occurs by a classical two-hit mechanism. TSC1 is located on chromosome 9q34 and encodes hamartin. TSC2 is located on chromosome 16p13 and encodes tuberin. Hamartin and tuberin interact with and regulate a variety of proteins. These are negative regulators of the mTOR pathway, which is important for cell proliferation and frequently found activated in tumors. Mutation or deletion of TSC1 or TSC2 is found in 9-16 % of urothelial bladder tumors and up to 3% of clear cell renal cell carcinomas. More than 50% of bladder tumors of all grades and stages show LOH for markers on chromosome 9 and the TSC1 locus at 9q34 is a common critical region of deletion. Therefore, mTOR inhibitors have been identified as potential therapies for TSC1-mutated bladder cancers in some studies. LOH for the TSC1 or TSC2 locus has been described in 22% of 86 human lung cancer specimens. However, TSC1/2 sequence alterations are infrequent in lung and other epithelial malignancies.

Last updated: 2020-07-24 14:52:40 UTC
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Tier 2
TSC2
Variants
TSC2 any missense
Primary Sites
Lung
Kidney
Bladder
Tumor Types
Adenocarcinoma
Clear Cell Renal Cell Carcinoma
Renal Cell Carcinoma
Urothelial Carcinoma
Interpretation

Germ line mutations of mutations in either TSC1 or TSC2 are found in 75-90% of cases of tuberous sclerosis complex (TSC), an autosomal dominant tumor syndrome associated with variable clinical phenotype including several hamrtomas and benign tumors. In addition, somatic alterations in these genes may occur in some tumor types. TSC1 and TSC2 both are tumor suppressor genes and their inactivation occurs by a classical two-hit mechanism. TSC1 is located on chromosome 9q34 and encodes hamartin. TSC2 is located on chromosome 16p13 and encodes tuberin. Hamartin and tuberin interact with and regulate a variety of proteins. These are negative regulators of the mTOR pathway, which is important for cell proliferation and frequently found activated in tumors. Mutation or deletion of TSC1 or TSC2 is found in 9-16 % of urothelial bladder tumors and up to 3% of clear cell renal cell carcinomas. More than 50% of bladder tumors of all grades and stages show LOH for markers on chromosome 9 and the TSC1 locus at 9q34 is a common critical region of deletion. Therefore, mTOR inhibitors have been identified as potential therapies for TSC1-mutated bladder cancers in some studies. LOH for the TSC1 or TSC2 locus has been described in 22% of 86 human lung cancer specimens. However, TSC1/2 sequence alterations are infrequent in lung and other epithelial malignancies.

Last updated: 2020-07-24 14:52:56 UTC
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Tier 2
IDH2
Variants
IDH2 R140Q
IDH2 codon(s) 140, 172 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

IDH2 is a mitochondrial enzyme involved in citrate metabolism. Mutations at Arg140 and Arg172 of IDH2 are typically heterozygous and are considered gain-of-function mutations that lead to increased levels of 2-hydroxyglutarate believed to alter epigenetic regulation in various tumors, especially in myeloid neoplasms. The Arg140 mutation of IDH2 has not been reported previously in lung tumors. However, a few other IDH2 mutations have been described in non-small cell lung cancers (NSCLC) in a very small number of patients in the literature. The prognostic impact of IDH2 mutations in NSCLC remains uncertain at this time. Mutant IDH2 may provide a potential therapeutic target in some settings. Clinical correlation is recommended.

Last updated: 2016-06-25 19:44:17 UTC
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Tier 3
PTPN11
Variants
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The PTPN11gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase. SHP-2 is essential for activation of the RAS/MAPK signaling cascade. Most mutations are gain-of-function and result in prolonged ligand-dependent activation of the RAS/MAPK cascade. Germ-line PTPN11 mutations cause Noonan syndrome, a developmental disorder characterized by an increased risk of malignancies. Activating somatic mutations in PTPN11 have been documented in certain hematologic malignancies but they are infrequent in solid tumors. About 3% of all lung cancers harbor somatic mutations in PTPN11 gene but their prognostic and therapeutic significance remains to be fully elucidated. The utility of SHP2 inhibitors continues to be explored in some preclinical studies.

Last updated: 2016-06-25 19:48:14 UTC
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Tier 3
CTNNB1
Variants
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

The cytoplasmic β-catenin protein is implicated as a cell-cell adhesion regulator coupled with cadherin and is considered as a member in the wingless/Wnt signal transduction pathway. Mutations in CTNNB1, the gene encoding β-catenin, tend to impact or even eliminate APC-dependent serine and threonine phosphorylation sites in exon 3, resulting in oncogenic stabilization of the protein. Increased protein within the nuclei serves as a transcriptional factor through binding to the Tcf/Lef family. Mutations in the β-catenin gene are uncommon in NSCLC occurring in about 1-4% of the cases. Nuclear accumulation of β-catenin was found to be associated with EGFR mutations, and β-catenin overexpression was associated with NSCLC cell line resistance to gefitinib. Wnt pathway inhibitors are in preclinical development or have entered early clinical trials. Because high β-catenin expression has been associated with good outcome rather than with poor outcome in NSCLC patients, it could potentially prove important to target specific downstream β-catenin functions rather than using agents that could directly suppress β-catenin levels through upstream targeting of the Wnt pathway.

Last updated: 2016-08-01 19:47:33 UTC
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Tier 2
BRAF
Variants
BRAF G466V
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Carcinoma
Melanoma
Interpretation

Somatic mutations in BRAF have been found in 1--4% of all NSCLC most of which are adenocarcinomas. The G466V mutation results in an amino acid substitution within the kinase domain of BRAF. Unlike other mutant BRAF proteins, G466V shows decreased kinase activity. In preclinical studies, lung cancer cell lines with G466V mutation were sensitive to TKI dasatinib, presumably by induction of tumor cell senescence. However, therapeutic implications of BRAF inhibitors in patients with this mutation need to be fully elucidated. Drug: Trametinib

Last updated: 2018-11-12 20:40:30 UTC
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Tier 1
EGFR
Variants
EGFR L747P
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. EGFR L747P (c.2239_2240 TT>CC) is a rare missense compound substitution mutation in the Exon 19 and has been reported to be resistant to some EGFR inhibitors.

Last updated: 2016-08-01 20:01:33 UTC
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Tier 2
ALK
Variants
ALK L1196M
ALK L1196Q
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The anaplastic lymphoma kinase (ALK) has emerged as a potentially relevant biomarker and therapeutic target in a variety of solid and hematologic malignancies. It is a receptor tyrosine kinase (RTK) that is known to be activated either by point mutations or by chromosomal translocations. These genetic alterations act as oncogenic drivers, promoting constitutive, ligand-independent activation of this RTK. Approximately 3-7% of non-small cell lung cancers (NSCLC) harbor ALK fusions/rearrangements. ALK fusion oncogenes are transforming both in vitro and in vivo, defining a distinct clinicopathologic subset of NSCLC that are highly sensitive to therapy with ALK-targeted inhibitors. While crizotinib (ALK/MET TKI) is highly active in patients with ALK-positive NSCLC, patients have been shown to invariably develop resistance to this drug. In approximately one-third of resistant cases, tumors can acquire a secondary mutation within the ALK tyrosine kinase domain. L1196 is present in the gatekeeper position at the bottom of the ATP-binding pocket of the protein. Gatekeeper genetic alterations seem to confer TKI resistance in oncogenic tyrosine kinases. L1196M mutant confers high-level resistance to crizotinib, but has been shown to be sensitive to ceretinib.

Last updated: 2020-07-24 14:53:09 UTC
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Tier 2
ALK
Variants
ALK G1202R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The anaplastic lymphoma kinase (ALK) has emerged as a potentially relevant biomarker and therapeutic target in a variety of solid and hematologic malignancies. It is a receptor tyrosine kinase (RTK) that is known to be activated either by point mutations or by chromosomal translocations. These genetic alterations act as oncogenic drivers, promoting constitutive, ligand-independent activation of this RTK. Approximately 3-7% of non-small cell lung cancers (NSCLC) harbor ALK fusions/rearrangements. ALK fusion oncogenes are transforming both in vitro and in vivo, defining a distinct clinicopathologic subset of NSCLC that are highly sensitive to therapy with ALK-targeted inhibitors. While crizotinib (ALK/MET TKI) is highly active in patients with ALK-positive NSCLC, patients have been shown to invariably develop resistance to this drug. In approximately one-third of resistant cases, tumors can acquire a secondary mutation within the ALK tyrosine kinase domain. ALK G1202R is postulated to be in the solvent-exposed region abutting the crizotinib-binding site, likely diminishing the binding affinity of crizotinib and other ALK inhibitors to the mutant ALK. G1202R has been shown to cause resistance to crizotinib as well as second generation ALK inhibitors (ceritinib, alectinib).

Last updated: 2020-07-24 14:53:15 UTC
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Tier 2
AKT1
Variants
AKT1 E17K
Primary Sites
Breast
Endometrium
Prostate
Lung
Ovary
Colon
Rectum
Tumor Types
Adenocarcinoma
Carcinoma
Interpretation

AKT1 mutations have been reported in a variety of tumor types such as endometrial, lung, breast, colorectal, ovarian, and prostate cancers. The mutations are mutually exclusive from PIK3CA mutations. Increased expression and activation of AKT1 observed in many cancers is caused by a variety of different mechanisms including genomic alterations of AKT1, PIK3CA, PTEN, RAS family members, or growth factor receptors. Gain-of-function alterations of AKT1 can lead to neoplastic transformation in model systems, and is a potential target for therapeutic strategies. The E17K variant is by far the most frequent AKT1 mutation reported, implicating it as an important tumor promoting event.

Last updated: 2016-10-11 21:31:48 UTC
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Tier 3
FGFR3
Variants
FGFR3 F384L
Primary Sites
Lung
Breast
Colon
Pancreas
Thyroid
Liver
Tumor Types
Adenocarcinoma
Carcinoma
Squamous Cell Carcinoma
Papillary Carcinoma
Follicular Carcinoma
Interpretation

FGFR3 is one of 4 high affinity tyrosine kinase receptors for the fibroblast growth factor family of ligands. On ligand stimulation, FGFR3 undergoes dimerization and tyrosine autophosphorylation, resulting in cell proliferation or differentiation, , through the mitogen-activated protein kinase (MAPK) and phospholipase Cg signal transduction pathways. Some FGFR3 mutations are believed to result in ligand-independent activation of the receptor. However, FGFR3 F384L mutation is not associated with activation of FGFR and, in NIH-3T3 cells, it was demonstrated to be devoid of any transforming activity. In some cases, the possibility of FGFR3 variants being of germline origin, cannot be excluded. The FGFR3 F384L mutation has been reported as a benign/likely benign germline variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134404/). Clinical correlation is recommended.

Last updated: 2019-02-22 18:08:17 UTC
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Tier 1
FGFR1
Variants
FGFR1 copy number gain
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

FGFR1 amplification is associated with poor survival in patients with resected squamous cell lung cancer. FGRF1 amplification may be associated with sensitivity to the multitargeted tyrosine kinase inhibitor pazopanib.

Last updated: 2017-01-20 03:40:24 UTC
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Tier 1
EML4
Variants
EML4-ALK rearrangement
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Adenocarcinoma
Interpretation

The ALK gene encodes a receptor tyrosine kinase that is recurrently altered by chromosomal rearrangements in multiple malignancies, and the prevalence of oncogenic ALK fusions in lung adenocarcinoma is approximately 5%. The EML4-ALK fusion is known to be oncogenic. Crizotinib is a tyrosine kinase inhibitor that is FDA approved for treatment of ALK-fusion positive lung non-small lung carcinoma.

Last updated: 2019-12-30 23:08:04 UTC
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Tier 2
CRKL
Variants
CRKL copy number gain
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

CRKL (Crk-like protein) is a substrate of the BCR-ABL tyrosine kinase, and plays a role in fibroblast transformation by BCR-ABL. It is potentially oncogenic. In lung adenocarcinomas, CRKL amplification may be associated with resistance to anti-EGFR therapy.

Last updated: 2017-02-09 17:17:18 UTC
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Tier 2
ERBB3
Variants
ERBB3 copy number gain
Primary Sites
Prostate
Bladder
Breast
Stomach
Ovary
Pancreas
Lung
Uterus
Tumor Types
Adenocarcinoma
Interpretation

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. Amplification of ERBB3 and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, non small cell lung cancer, endometrial cancer and breast tumors. Several ERBB3 inhibitors are under various clinical trials against different types of solid tumors, including non small cell lung cancer, breast cancer, ovarian cancer and gastric cancer.

Last updated: 2017-02-09 19:12:37 UTC
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Tier 2
CCND1
Variants
CCND1 copy number gain
Primary Sites
Bladder
Esophagus
Oral Cavity
Larynx
Bladder
Lung
Breast
Prostate
Ovary
Stomach
Pancreas
Tumor Types
Adenocarcinoma
Urothelial Carcinoma
Squamous Cell Carcinoma
Interpretation

The protein of CCND1 (Cyclin D 1) belongs to the highly conserved cyclin family, functioning as regulators of CDK kinases. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Amplification of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors. Cyclin D1 and the mechanisms it regulates have the potential to be a therapeutic target for cancer drugs, including inhibition of Cyclin D1, induction of Cyclin D1 degradation, and inhibition of Cyclin D1/CDK 4/6 complex.

Last updated: 2017-02-09 20:02:30 UTC
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Tier 2
FGFR2
Variants
FGFR2 copy number gain
Primary Sites
Lung
Oral Cavity
Breast
Uterus
Stomach
Bladder
Testis
Ovary
Tumor Types
Squamous Cell Carcinoma
Urothelial Carcinoma
Adenocarcinoma
Germ Cell Tumor
Interpretation

Activation of FGFR protein family can lead to the activation of RAS-MAPK and PI3K-AKT pathways. Amplification of FGFR2 has been observed in lung adenocarcinoma, lung squamous cell carcinoma, endometrial carcinoma, urothelial carcinoma, germ cell tumor and breast cancers. Anti-FGFR2 agents are actively under multiple clinical trials against many types of solid tumor, including lung squamous cell carcinoma, gastric cancer, endometrial cancer, and cholangiocarcinoma. Germeline mutations in FGFR2 are also associated with multiple craniosynostosis syndromes.

Last updated: 2017-02-09 23:55:11 UTC
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Tier 2
KIT
Variants
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. Altered forms of this receptor may be associated with some types of cancers. Somatic mutations of KIT in lung adenocarcinoma are relatively rare, reported up to 3.3% of the cases. The predictive and prognostic significance of KIT mutations in lung adenocarcinomas needs further elucidation. Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2017-02-10 15:53:25 UTC
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Tier 2
IDH1
Variants
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

IDH1 is an enzyme localized to the cytoplasm and peroxisomes and involved in citrate metabolism. IDH-mutant tumors have aberrant production and accumulation of the oncometabolite 2-hydroxyglutarate (2-HG), which may play a pivotal oncogenic role in several malignancies including AML, central nervous system and biliary tract. Strikingly, IDH1 mutations were rarely detected in the other solid tumor types. IDH1 mutations have been reported in 1-2% of lung adenocarcinomas. The clinical significance of this mutation with regards to response to anti-IDH1 therapy in lung cancer is unknown. Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2017-02-21 16:10:21 UTC
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Tier 2
ERBB2
Variants
ERBB2 L755S
ERBB2 L755P
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB2 encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. ERBB2 mutations have been reported in ~2-3% of lung adenocarcinomas. The majority of ERBB2 mutations are in-frame insertions in exon 20, which encodes part of the kinase domain; however, point mutations (L755S and G776C) have also been identified. Lung adenocarcinomas with ERBB2 mutations are mutually exclusive with EGFR, KRAS, ALK alterations and these variants are more frequent in patients who are never-smokers. Mutations in ERRB2 do not have an independent prognostic value in lung adenocarcinoma, according to a recent study. In vitro analyses have shown that ERBB2 L755P and L755S mutations are associated with constitutive kinase activation and resistance to lapatinib treatment. The predictive significance of ERBB2 mutations in lung adenocarcinomas needs further elucidation. Recommend correlation with other clinical and laboratory findings.

Last updated: 2017-02-21 16:15:52 UTC
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Tier 2
BRAF
Variants
BRAF codon(s) 594 any
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in up to 10% of all NSCLC, more common in adenocarcinomas. D594 is a highly conserved residue within the kinase domain of BRAF and mutation of this residue appears to result in kinase inactivation. In vitro study has shown that kinase-dead BRAF forms a constitutive complex with CRAF in the presence of activated RAS leading to MEK and ERK signaling. The predictive and prognostic significance of this mutation needs further study. Clinical correlation is recommended.

Last updated: 2017-03-15 21:04:30 UTC
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Tier 1
EGFR
Variants
EGFR S768I
EGFR V769L
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR tyrosine kinase inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. EGFR S768I (exon 20) occurs in 1–2% of EGFR mutant lung cancers and is often coincident with other EGFR mutations. S768I and V769L have previously been identified in the same NSCLC tumors. There are conflicting data regarding the sensitivity to EGFR-TKIs of tumors harboring S768I and V769L mutations. Correlation with other clinical and laboratory findings is necessary.

Last updated: 2017-04-10 18:14:01 UTC
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Tier 1
EGFR
Variants
EGFR L861R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Erlotinib Afatinib Gefitinib

Last updated: 2017-08-01 17:55:42 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
EGFR
Variants
EGFR K757M
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. EGFR K757M has been reported as a rare variant lung adenocarcinoma, but the significance remains to be elucidated.

Last updated: 2018-03-06 18:00:24 UTC
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Tier 3
FGFR1
Variants
FGFR1 T141R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

FGFR1 is a receptor tyrosine kinase activated upon binding of the FGF ligand, which activates RAS-MAPK and PI3K-AKT pathways. Altered function of FGFR1 in cancer may lead to increased cell proliferation and decreased apoptosis. The most common alteration of FGFR1 in lung adenocarcinoma is amplification and point mutations are rare (1% of cases). FGFR1 T141R does not lie within any known functional domains of the FGFR1 protein. T141R has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on protein function is unknown. T141R has been reported as a somatic mutation in one case of lung adenocarcinoma in the literature. The clinicopathologic significance of FGFR1 T141R remains to be further elucidated.

Last updated: 2018-03-30 16:11:14 UTC
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Tier 3
RET
Variants
RET E623K
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

Proto-oncogene tyrosine-protein kinase receptor RET, activates the MAPK pathway for cell proliferation and the PI3K/AKT pathway for cell survival. Certain inherited mutations in the RET proto-oncogene predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes including MEN 2A and 2B, and familial medullary thyroid carcinoma. Somatic mutations in RET are rare in squamous cell carcinoma of the lung and are found in 2-3% of cases. RET E623K lies within the extracellular domain of the RET protein, but has not been characterized and therefore its effect on RET protein function is unknown. RET E623K has been reported as a benign germline mutation in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/24906/). These results should be interpreted in the clinical context.

Last updated: 2018-04-05 01:43:43 UTC
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Tier 1
EGFR
Variants
EGFR E709K
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Afatinib Erlotinib Gefitinib

Last updated: 2018-04-06 14:42:49 UTC
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Tier 1
EGFR
Variants
EGFR A750P
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Afatinib Erlotinib Gefitinib

Last updated: 2018-04-06 14:44:03 UTC
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Tier 1
EGFR
Variants
EGFR A763_Y764insFQEA
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Sensitive to: Afatinib Erlotinib Gefitinib

Last updated: 2018-04-06 14:49:59 UTC
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Tier 1
EGFR
Variants
EGFR G719A
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Afatinib Erlotinib Gefitinib AP32788

Last updated: 2018-04-06 14:54:39 UTC
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Tier 1
EGFR
Variants
EGFR G719C
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Afatinib Erlotinib Gefitinib

Last updated: 2018-04-06 15:07:27 UTC
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Tier 1
BRAF
Variants
BRAF V600G
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Vemurafenib Dabrafenib Dabrafenib + Trametinib

Last updated: 2018-04-06 15:16:54 UTC
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Tier 1
BRAF
Variants
BRAF V600D
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Vemurafenib Dabrafenib Dabrafenib + Trametinib

Last updated: 2018-04-06 15:38:31 UTC
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Tier 1
MET
Variants
MET D1010Y
MET D1010N
MET D1010H
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Crizotinib

Last updated: 2018-04-18 14:42:54 UTC
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Tier 1
BRAF
Variants
BRAF codon(s) 600 any
BRAF V600M
Primary Sites
Colon
Lung
Tumor Types
Melanoma
Langerhans Cell Histiocytosis
Non-Small Cell Lung Carcinoma
Interpretation

Vemurafenib Dabrafenib Dabrafenib + Trametinib Vemurafenib + Cobimetinib Vemurafenib + Panitumumab Encorafenib + Binimetinib + Cetuximab Radiation + Trametinib + Fluorouracil

Last updated: 2018-04-18 14:48:35 UTC
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Tier 1
EGFR
Variants
EGFR G719S
EGFR G719D
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

Afatinib Erlotinib Gefitinib

Last updated: 2018-12-27 19:19:21 UTC
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Tier 2
BRAF
Variants
BRAF G466R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas. The G466R mutation results in an amino acid substitution within the kinase domain of BRAF. Unlike other mutant BRAF proteins, G466R shows decreased kinase activity, however, it also causes paradoxically activation Erk signaling in cell culture Therapeutic implications of BRAF inhibitors in patients with this mutation need to be fully elucidated.

Last updated: 2018-04-18 18:23:55 UTC
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Tier 2
STK11
Variants
STK11 E33*
Primary Sites
Lung
Tumor Types
Neuroendocrine Carcinoma
Interpretation

The STK11 is a tumor suppressor gene located on chromosome 19p13.3. The encoded protein has serine--threonine kinase activity. Functionally, STK11 regulates cellular energy metabolism and cell polarity by activating AMP-activated protein kinase (AMPK) and other members of the AMPK family. Germline mutations in the STK11 gene are responsible for Peutz--Jeghers syndrome, an autosomal dominant disorder with variable clinical phenotype and increased risk of some cancers. Somatic mutations of STK11 gene are reported in several tumors including lung cancers. Studies have demonstrated STK11 inactivation is a common event and may be involved in the development of sporadic lung adenocarcinoma. Inactivation mutations of STK11 are found in 15% of primary lung adenocarcinomas and 33% of large cell neuroendocrine carcinomas of the lung. Clinical relevance of these alterations and impact on disease progression and patient survival needs to be fully elucidated.

Last updated: 2018-05-16 16:42:44 UTC
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Tier 3
PTPN11
Variants
PTPN11 V497L
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The PTPN11gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase. SHP-2 is essential for activation of the RAS/MAPK signaling cascade. Most mutations are gain-of-function and result in prolonged ligand-dependent activation of the RAS/MAPK cascade. Germ-line PTPN11 mutations cause Noonan syndrome, a developmental disorder characterized by an increased risk of malignancies. Activating somatic mutations in PTPN11 have been documented in certain hematologic malignancies but they are infrequent in solid tumors. About 3% of all lung cancers harbor somatic mutations in PTPN11 gene but their prognostic and therapeutic significance remains to be fully elucidated. The PTPN11 V497L variant identified in this case has not been characterized in the literature and therefore its effect on protein function is unknown. This variant is best classified as a variant of uncertain significance. The utility of SHP2 inhibitors continues to be explored in some preclinical studies.

Last updated: 2018-06-13 18:53:22 UTC
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Tier 2
PTPN11
Variants
PTPN11 G503V
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The PTPN11gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase. SHP-2 is essential for activation of the RAS/MAPK signaling cascade. Most mutations are gain-of-function and result in prolonged ligand-dependent activation of the RAS/MAPK cascade. Germ-line PTPN11 mutations cause Noonan syndrome, a developmental disorder characterized by an increased risk of malignancies. Activating somatic mutations in PTPN11 have been documented in certain hematologic malignancies but they are infrequent in solid tumors. The G503V variant results in increased phosphatase activity compared to the wild-type protein in culture. About 3% of all lung cancers harbor somatic mutations in PTPN11 gene but their prognostic and therapeutic significance remains to be fully elucidated. The utility of SHP2 inhibitors continues to be explored in some preclinical studies.

Last updated: 2018-06-13 18:54:45 UTC
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Tier 3
NOTCH1
Variants
NOTCH1 L2457V
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

NOTCH1 is a transmembrane receptor that plays a role in various cellular processes including cell fate determination, growth, and survival. NOTCH1 may be somatically mutated in a variety of cancers, and these mutations can be either gain- or loss-of-function mutations depending on the tumor type. Translocations and activating somatic mutations in NOTCH1 have been identified in T-cell acute lymphoblastic leukemia and chronic lymphocytic leukemia. On the other hand, NOTCH1 loss-of-function somatic mutations are more common in solid tumors, namely squamous cell carcinomas, and occur as missense, frameshift or nonsense mutations. Somatic NOTCH1 mutations are rare in lung adenocarcinoma and are found in about 4% of cases. The NOTCH1 L2457V variant identified in this case has been reported as a benign germline finding in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/380420/). These results should be interpreted in the clinical context.

Last updated: 2018-06-13 19:00:04 UTC
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Tier 2
CTNNB1
Variants
CTNNB1 Y30_I35del
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The cytoplasmic b-catenin protein is implicated as a cell-cell adhesion regulator coupled with cadherin and is considered as a member in the wingless/Wnt signal transduction pathway. Mutations in CTNNB1, the gene encoding b-catenin, tend to impact or even eliminate APC-dependent serine and threonine phosphorylation sites in exon 3, resulting in oncogenic stabilization of the protein. Mutations in the b-catenin gene are uncommon in NSCLC occurring in about 1-4% of the cases. This particular variant has not been described lung adenocarcinomas but is located in a hotspot, thus likely to be oncogenic. Clinical correlation is recommended.

Last updated: 2018-10-05 18:21:13 UTC
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Tier 1
FGFR3
Variants
FGFR3 copy number gain
Primary Sites
Lung
Oral Cavity
Tumor Types
Squamous Cell Carcinoma
Interpretation

FGFR3 amplification may be associated with response to the multitargeted tyrosine kinase inhibitor pazopanib.

Last updated: 2018-11-12 20:40:32 UTC
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Tier 1
BRAF
Variants
BRAF V600E
BRAF codon(s) 600 any
Primary Sites
Bone
Lung
Bone Marrow
Lymph Node
Skin
Tumor Types
Langerhans Cell Histiocytosis
Histiocytic and Dendritic Cell Neoplasms
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 40-70% of Langerhans cell histiocytosis and approximately 50% of Erdheim-Chester disease. 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 settings, and clinical trials for advanced BRAF V600 mutation-positive tumors using targeted therapy (often in combination with other therapy) may be available (clinical trials.gov).

Last updated: 2018-11-12 20:40:44 UTC
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Tier 3
NOTCH1
Variants
NOTCH1 exon(s) 26-27 deletion
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

NOTCH1 is a transmembrane receptor, which plays a role in cell fate determination, growth, and survival. Notch signaling has been demonstrated to play a role in lung development and lung carcinogenesis. Notch activity is counteracted by NUMB. Gain-of-function mutations of NOTCH1 have been identified in approximately 10% of patients with non-small cell lung carcinoma (NSCLC). In addition, loss-of-function mutations in NUMB that allow for increased NOTCH1 activity have been observed in approximately 30% of NSCLC patients. Studies have observed that increased NOTCH1 expression is associated with a poor prognosis in patients with lung adenocarcinoma. The NOTCH1 intronic deletion variant (NM_017617:g.139397792_139397795del) is located nine base pairs downstream of exon 27. While the variant is located in close proximity to an exon-intron junction, a potential effect on gene splicing is unknown. These results should be interpreted in the clinical context.

Last updated: 2019-01-22 18:25:31 UTC
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Tier 3
ATM
Variants
ATM R2691C
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ATM is a member of the protein superfamily of phosphatidylinositol 3-kinase related serine/threonine kinases (PIKKs). ATM functions as a tumor suppressor that initiates DNA damage checkpoint signaling. Germline loss-of-function mutations in ATM have been identified in the autosomal recessive disorder Ataxia telangiectasia. Somatic mutations in ATM have been identified in lymphoid malignancies and a selection of solid tumors. ATM-mutant cancers are increasingly sensitive to DNA damaging agents due to deficits in DNA repair pathways, and ATM loss may result in better response to checkpoint inhibition in some cancers. Genetic alterations of ATM have been identified in approximately 10% of lung adenocarcinomas. One study predicted impaired ATM kinase activity in the setting of ATM R2691C mutation based on structural modeling; however, these results have not been validated biochemically. Of note, this variant is reported in ClinVar as a germline variant of uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/133636/). Correlation with other clinical and lab findings is recommended.

Last updated: 2019-01-22 18:25:58 UTC
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Tier 2
BRAF
Variants
BRAF V600E
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

BRAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). Activating BRAF(V600E) (Val600Glu) mutations have been identified in approximately 1-2% of lung adenocarcinomas. Various BRAF inhibitors (Vemurafenib, Dabrafenib, and Trametinib) have been FDA approved for therapy for some tumor types in certain clinical settings. Of note, Dabrafenib and Trametinib are approved for metastatic non-small cell lung cancer (NSCLC) harboring BRAF V600E mutations.

Last updated: 2019-01-22 18:29:57 UTC
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Tier 2
KDR
Variants
KDR R962H
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

KDR (kinase domain receptor), also known as VEGFR2 or Flk-1, is a tyrosine kinase receptor for vascular endothelial growth factor (VEGF) and plays a key role in angiogenesis. While KDR mutations are rare, amplification or protein overexpression have been reported in small proportion of a variety of solid tumors. Genetic alteration in KDR have been identified in 10% of lung adenocarcinomas. KDR (VEGFR2) R962H lies within the protein kinase domain of the KDR. This variant has not been biochemically characterized; however, mutations in this locus have been identified in various tumor types. Most therapies blocking KDR signaling target the angiogenesis pathway in general, such as bevacizumab, an antibody that targets VEGF-A. These results should be interpreted in the clinical context.

Last updated: 2019-01-22 18:33:59 UTC
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Tier 2
PIK3CA
Variants
PIK3CA H1047R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The catalytic subunit (p110a) of phosphatidylinositol-3-kinase (PI3K) is encoded by the PIK3CA gene and acts to activate several signaling cascades, including the well-characterized AKT-mTOR pathway that promotes cell survival, proliferation, growth and motility. PIK3CA is among the most commonly mutated genes in cancer and aberrant activation of PI3K is a transforming event. Somatic mutations in PIK3CA have been found in 1--3% of NSCLC and genetic alteration in PIK3CA have been identified in 7% of lung adenocarcinomas. These mutations typically occur within specific hotspot regions. PIK3CA mutations appear to be more common in squamous cell histology compared to adenocarcinoma and can occur with or without a history of smoking. PIK3CA mutations can co-occur with EGFR mutations and PIK3CA mutations have been detected in a small percentage (approximately 5%) of EGFR-mutated lung cancers with acquired resistance to EGFR TKI therapy. The PIK3CA H1047R mutation is known to be oncogenic.

Last updated: 2019-01-22 18:40:15 UTC
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Tier 3
KIT
Variants
KIT G565V
Primary Sites
Kidney
Lung
Colon
Thyroid
Tumor Types
Renal Cell Carcinoma
Adenocarcinoma
Papillary Carcinoma
Interpretation

KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. Altered forms of this receptor may be associated with many types of cancers including hematopoietic malignancies, gastrointestinal stromal tumors, and various carcinomas and sarcomas. KIT G565V lies within the cytoplasmic domain of the Kit protein; this variant has been documented in the scientific literature (in melanoma). While its effect on Kit protein function is unknown, it is reported in ClinVar as likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/41600/).

Last updated: 2019-01-22 19:23:31 UTC
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Tier 3
APC
Variants
APC I1307K
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The APC gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. APC promotes rapid degradation of beta-catenin and participates in Wnt signaling as a negative regulator. APC is also involved in other processes including cell migration, cell adhesion, transcriptional activation and apoptosis. Germline defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. Codon I1307 lies within a regulatory region of the APC protein mediated by ubiquitination. Germline APC I1307K is associated with increased colorectal cancer risk by making the gene unstable and prone to acquire mutations during normal cell division. The germline APC I1307K gene mutation is most commonly found in people of Ashkenazi Jewish descent. Therefore, routine colorectal screening is very important in these individuals. One study showed that males had significantly increased I1307K carrier prevalence in lung, urologic, pancreatic, and skin cancers. APC somatic mutations are found 4% of lung adenocarcinomas. The I1307K has not been reported as a somatic mutation in lung adenocarcinomas to date. The prognostic and therapeutic implications of somatic APC mutations in lung adenocarcinomas remain to be fully elucidated. Correlation with other clinical and lab findings is recommended.

Last updated: 2019-01-22 19:24:45 UTC
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Tier 2
RB1
Variants
RB1 R320*
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The protein encoded by the RB1 gene is a negative regulator of the cell cycle and was the first tumor suppressor gene identified. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Inactivation of RB1 and loss of RB1 tumor suppressor function has been identified in many early stage cancers. RB1 alterations are found in approximately 8% of non-small cell lung cancers. RB1 S576fs*34 results in early truncation of the RB1 protein and presumably loss of function. The predictive and prognostic significance of RB1 mutations in lung non-small cell carcinoma is undergoing further investigation. It has been suggested that patients with RB1-deficient tumors do not respond to cyclin-dependent kinase (CDK) inhibitors; however, the clinical implication of the loss of a single copy of RB1, as in this patient's case, remains to be fully elucidated. These results should be interpreted in the clinical context.

Last updated: 2019-01-22 19:25:15 UTC
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Tier 1
PTEN
Variants
PTEN R173H
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. Somatic mutations in PTEN have been found in 4--8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored. This particular variant is known to be oncogenic. It has also been reported as pathogenic/likely pathogenic germline variant according to ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/376032/).

Last updated: 2019-05-23 22:42:51 UTC
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Tier 3
KIT
Variants
KIT C844Y
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. Altered forms of this receptor may be associated with some types of cancers. Somatic mutations of KIT in lung adenocarcinoma are relatively rare, reported up to 3.3% of the cases. The predictive and prognostic significance of KIT mutations in lung adenocarcinomas needs further elucidation. According to ClinVar, the clinical significance of this particular variant C844Y is unknown (https://preview.ncbi.nlm.nih.gov/clinvar/variation/409781/). Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2019-02-22 18:03:55 UTC
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Tier 1
EGFR
Variants
EGFR E709_G719delins11
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR exon19 deletions, exon 21 L858R and Exon 18 mutations correlate strongly with sensitivity to specific EGFR inhibitors, and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. Compound (dual) mutations in EGFR have been previously reported in lung adenocarcinoma and typically include a strong activating mutation combined with a weaker activating mutation. These cases appear to respond well to the EGFR targeted therapies. Mutations at E709 in exon 18 often occur together with other mutations in EGFR. This particular complex deletion insertion variant results in both the E709V and G719C in the protein, as well as a K713R variant, which also has been reported previously.

Last updated: 2019-02-22 18:04:20 UTC
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Tier 2
PTEN
Variants
PTEN Q214*
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. Somatic mutations in PTEN have been found in 4--8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. This particular variant is likely to be oncogenic. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored.

Last updated: 2019-02-22 18:04:55 UTC
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Tier 2
CTNNB1
Variants
CTNNB1 S37C
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The cytoplasmic b-catenin protein is implicated as a cell-cell adhesion regulator coupled with cadherin and is considered as a member in the wingless/Wnt signal transduction pathway. Mutations in CTNNB1, the gene encoding b-catenin, tend to impact or even eliminate APC-dependent serine and threonine phosphorylation sites in exon 3, resulting in oncogenic stabilization of the protein. Mutations in the b-catenin gene are uncommon in NSCLC occurring in about 1-4% of the cases. CTNNB1 S37C is a gain of function mutation, has been described in 0.3% of non-small cell lung carcinomas and is likely oncogenic. However, its prognostic and therapeutic significance remains to be fully elucidated.

Last updated: 2019-02-22 18:05:50 UTC
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Tier 2
ERBB4
Variants
ERBB4 P920H
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

ERBB4 is a member of the EGFR subfamily of receptor tyrosine kinases. Approximately 5.4% of non-small cell lung cancers harbor ERBB4 missense mutations (COSMIC). In addition, 5.2% of adenocarcinomas have mutations in the ERBB4 gene that encode an amino acid change in the receptor. Activating, potentially oncogenic ERBB4 mutations (in particular Y285C, D595V, D931Y, and K935I) have been identified. However, the functional effects of lung cancer associated ERBB4 mutations is largely unknown. ERBB4 P920H variant has been seen in one case of squamous cell carcinoma of the head and neck (cancer.sanger.ac.uk). However, further studies are warranted to assess the potential prognostic and therapeutic significance of this and other variants of ERBB4.

Last updated: 2019-02-22 18:06:43 UTC
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Tier 2
EGFR
Variants
EGFR R108K
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. The T790M mutation in exon 20 is associated with resistance to some EGFR inhibitors. However, third generation TKI (eg, osimertinib) can specifically target T790M. EGFR R108K (C.323G>A) is a rare missense mutation in Exon 3. In a study of 1006 lung carcinomas, R108K mutation was found concomitantly with other EGFR mutations - most notably p.L858R (Illei et.al). However, its prognostic and therapeutic significance remains to be fully elucidated.

Last updated: 2019-02-22 18:07:41 UTC
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Tier 2
PIK3CA
Variants
PIK3CA E542K
PIK3CA E545K
PIK3CA H1047R
PIK3CA codon(s) 542, 545, 1047 any
Primary Sites
Anus
Oral Cavity
Pharynx
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

The catalytic subunit (p110a) of phosphatidylinositol-3-kinase (PI3K) is encoded by the PIK3CA gene and acts to activate several signaling cascades, including the well-characterized AKT-mTOR pathway that promotes cell survival, proliferation, growth and motility. PIK3CA is among the most commonly mutated genes in cancer and aberrant activation of PI3K is a transforming event. Somatic mutations in PIK3CA have been found in 1--3% of NSCLC and genetic alteration in PIK3CA have been identified in 7% of lung adenocarcinomas. These mutations typically occur within specific hotspot regions. PIK3CA mutations activate the PI3K-PTEN-AKT pathway which is downstream from both the EGFR and the RAS-RAF-MAPK pathways. The somatic mutations found thus far in PIK3CA are oncogenic, and the majority of them are clustered within exon 9 and 20 (helical and kinase domains), with three hotspots (E542K, E545K, and H1047R/L). PIK3CA mutations have been reported in 8-21% and 20-33% of head/neck and anal squamous cell carcinoma, respectively. PIK3CA mutations, especially ones involving the helical domain, in these types of squamous cell carcinoma are highly associated with HPV. The predictive and prognostic significance of PIK3CA mutations in squamous cell carcinoma is unclear and needs further elucidation. Clinical trials targeting PI3K/Akt/mTor pathway inhibitors are available for patients with PIK3CA mutated tumors.

Last updated: 2019-03-11 16:30:45 UTC
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Tier 2
CTNNB1
Variants
CTNNB1 S37F
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

CTNNB1 encodes the protein b-catenin, a transcriptional activator involved in the WNT signaling pathway. Somatic gain-of-function mutations in CTNNB1 result in aberrant accumulation of the b-catenin protein and are prevalent in a wide range of solid tumors, including endometrial carcinoma, ovarian carcinoma, hepatocellular carcinoma, and colorectal carcinoma, among others. Genetic alterations in CTNNB1 have been identified in 4% of non-small cell lung cancers. The CTNNB1 S437F mutation has been reported as pathogenic in lung adenocarcinoma, but no real progress has been made in targeting oncogenic mutant forms of CTNNB1 in lung cancer. However, CTNNB1 mutation-positive cancers are presumed to be resistant to pharmacologic inhibition of upstream components of the WNT pathway, instead requiring direct inhibition of b-catenin function. In one study pharmacological inhibition of b-catenin suppressed EGFR-L858R/T790M mutated lung tumor and genetic deletion of the b-catenin gene dramatically reduced lung tumor formation in transgenic mice, suggesting that b-catenin plays an essential role in lung tumorigenesis and that targeting the b-catenin pathway may provide novel strategies to prevent lung cancer development or overcome resistance to EGFR TKIs. These results should be interpreted in the clinical context.

Last updated: 2019-03-11 16:31:19 UTC
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Tier 2
PTEN
Variants
PTEN G129R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. Somatic mutations in PTEN have been found in 4--8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored. This particular variant is known to be oncogenic.

Last updated: 2019-03-11 16:33:09 UTC
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Tier 3
BRAF
Variants
BRAF V590I
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in 1-4% of all NSCLC most of which are adenocarcinomas and may be a potential therapeutic target in some settings. The BRAF V590I variant lies within the protein kinase domain of the Braf protein, has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Braf in culture (PMID: 29533785), and therefore is predicted to have no effect on Braf protein function, but its oncogenic potential has not been characterized. Clinical correlation is recommended.

Last updated: 2019-03-11 16:59:32 UTC
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Tier 1
EGFR
Variants
EGFR G796S
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Adenocarcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR tyrosine kinase inhibitors (TKIs, eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. Exon 20 mutations are more commonly associated with resistance to tyrosine kinase inhibitors (TKIs), but may respond to third generation TKI (eg, osimertinib). This EGFR variant (G796S) lies within the tyrosine kinase domain and has been reported in rare cases of lung adenocarcinomas, squamous cell carcinoma of head and neck and prostate adenocarcinoma. In silico studies suggest G796S mutation may confer resistance to TKIs. However, additional studies are needed to further elucidate the oncogenicity of the mutation and therapeutic implications of this rare variant.

Last updated: 2019-07-15 15:39:26 UTC
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Tier 2
IDH1
Variants
IDH1 R119Q
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Non-Small Cell Lung Carcinoma
Interpretation

IDH1 is an enzyme localized to the cytoplasm and peroxisomes and involved in citrate metabolism. IDH-mutant tumors have aberrant production and accumulation of the oncometabolite 2-hydroxyglutarate (2-HG), which may play a pivotal oncogenic role in several malignancies including AML, central nervous system and biliary tract. Strikingly, IDH1 mutations were rarely detected in the other solid tumor types. While IDH1 mutations have been reported in 1-2% of lung adenocarcinomas, the clinical significance of this mutation with regards to response to anti-IDH1 therapy in lung cancer is unknown. This specific IDH1 p.PR119Q has been identified in numerous reports, but it has not been biochemically characterized and its effect on protein function is unknown. Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2019-07-15 15:39:42 UTC
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Tier 2
CDKN2A
Variants
CDKN2A G67C
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

CDKN2A gene functions as an important tumour suppressor in various human malignancies and somatic mutations in this gene are present in various tumor types, including, lung adenocarcinoma, squamous cell carcinoma of the larynx, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer, among other cancer types. Majority of the CDKN2A mutations span exon 2 and result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. This particular variant G67C is considered to be likely pathogenic based on the known pathogenicity of G67R/S. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Last updated: 2019-07-15 15:40:29 UTC
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Tier 2
CDKN2A
Variants
CDKN2A D84V
Primary Sites
Lung
Unknown
Skin
Tumor Types
Adenosarcoma
Squamous Cell Carcinoma
Melanoma
Interpretation

Somatic mutations of CDKN2A are present in various tumor types, including, squamous cell carcinoma of the lung, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer. Majority of the CDKN2A mutations span exon 2 and result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. The D84V mutant is predicted to confer loss of function to the CDKN2A protein as demonstrated by an inability to bind and inhibit the cyclin-dependent kinases CDK4 and CDK6. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Last updated: 2019-07-15 15:41:03 UTC
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Tier 3
SMO
Variants
SMO P641A
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Adenocarcinoma
Interpretation

Smoothened (SMO) is a co-receptor involved in the Hedgehog (Hh) signaling. Constitutive or aberrant activation of the Hh pathway leading to tumorigenesis is seen in many cancers with SMO activating mutations identified in basal cell carcinoma and medulloblastoma. Several Hh signaling pathway inhibitors, such as vismodegib and sonidegib, have been recently developed for cancer treatment. Germline or somatic SMO mutations have not been previously characterized in NSCLC; however, in a recent report a germline SMO P641A mutation in a patient with refractory NSCLC responded to vismodegib therapy for several months. The functional effect of SMO V404M is conflicting as it demonstrated activity similar to the normal protein in culture in one study, but resulted in near complete loss of Hh pathway signaling in another study, and therefore, its effect on SMO protein function is unknown. Clinical correlation is recommended.

Last updated: 2019-07-15 15:41:20 UTC
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Tier 3
VHL
Variants
VHL codon(s) 430 nonsense
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

The Von Hippel-Lindau (vHL) gene encodes a protein that is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. The VHL gene may be altered as a somatic (acquired) alteration and/or as a germline alteration associated with a rare autosomal dominant inherited cancer syndrome predisposing to a variety of malignant and benign tumors including clear cell renal cell carcinoma (ccRCC). Alterations in VHL have been reported in less than 1% of lung adenocarcinomas. The VHL p.G144* has been reported in multiple renal cell carcinomas as a somatic alteration. According to ClinVar, the VHL p.G144* is also reported as a pathogenic germline variant (https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/). These results should be interpreted in the clinicopathologic context and appropriate germline genetic workup may be considered if clinically indicated.

Last updated: 2019-08-29 17:49:41 UTC
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Tier 2
PTEN
Variants
PTEN I101T
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. Loss of PTEN is most commonly due to promoter hypermethylation, while homozygous deletion and nonsense mutations with loss of heterozygosity (LOH) may also occur. PTEN mutations may occur in multiple exons. Somatic mutations in PTEN have been found in 4-8% of non-small cell carcinomas (NSCLC) including adenocarcinomas and squamous cell carcinomas. In preclinical studies, PTEN loss is associated with decreased sensitivity of EGFR mutant lung tumors to EGFR TKIs. Clinical trials assessing the efficacy of PI3K inhibitors in PTEN loss are being explored. The PTENI101T has been observed in a variety of cancer types, most frequently gliomas, and has been predicted to be pathogenic. However, one study identified the PTEN I101T variant in 1 out of 172 patients with germline PTEN mutations.

Last updated: 2019-08-29 17:54:48 UTC
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Tier 3
APC
Variants
APC K1454E
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

The APC gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. APC promotes rapid degradation of beta-catenin and participates in Wnt signaling as a negative regulator. Germline defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Somatic mutations in APC have been reported in 4% of lung adenocarcinomas, the prognostic and therapeutic implications of which remain to be fully elucidated. APC K1454E lies within the beta-catenin binding and down-regulation region of the Apc protein. K1454E suppresses beta-catenin mediated transcription at a level similar to wild-type Apc in a cell culture assay and therefore, is predicted to have no effect on Apc protein function. This variant has also been reported as a germline variant in prior studies and reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/RCV000200964/) as likely benign.

Last updated: 2019-08-29 17:55:08 UTC
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Tier 2
BRAF
Variants
BRAF D594G
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in BRAF have been found in up to 10% of all NSCLC, more common in adenocarcinomas. D594 is a highly conserved residue within the kinase domain of BRAF and mutation of this residue appears to result in kinase inactivation. In vitro study has shown that kinase-dead BRAF forms a constitutive complex with CRAF in the presence of activated RAS leading to MEK and ERK signaling.While clinical trials targeting BRAF-mutant NSCLC have mostly focused on patients with V600E-mutant disease, in vitro studies suggests potential sensitivity to targeted agents in cell lines with inactivating BRAF non-V600 mutations. However, established clinical activity of targeted BRAF and MEK inhibition in patients with these mutations has yet to be fully elucidated and further study is warranted. Clinical correlation is recommended.

Last updated: 2019-08-29 17:55:49 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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