WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
KIT
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon
KIT D419delKITmissense1255_1257delGAC8
KIT K642EKITmissenseCOSM13041924A>G13
KIT N655KKITmissenseCOSM2356821965T>G13
KIT V560DKITmissenseCOSM12571679T>A11
KIT Y823DKITmissenseCOSM186812467T>G17
KIT A829PKITmissenseCOSM131722485G>C18
KIT D816AKITmissenseCOSM246752447A>C17
KIT D816FKITmissenseCOSM13122446_2447GA>TT17
KIT D816HKITmissenseCOSM13112446G>C17
KIT D816IKITmissenseCOSM219792446_2447GA>AT17
KIT D816VKITmissenseCOSM13142447A>T17
KIT D816YKITmissenseCOSM13102446G>T17
KIT D820YKITmissenseCOSM127102458G>T17
KIT L576PKITmissenseCOSM12901727T>C11
KIT N822KKITmissenseCOSM13222466T>G17
KIT T417_D419delinsYKITmissense1249_1255ACTTACG>T8
KIT T670IKITmissenseCOSM127082009C>T14
KIT T670SKITmissenseCOSM4024452008A>T14
KIT V559AKITmissenseCOSM12551676T>C11
KIT V559IKITmissenseCOSM12511675G>A11
KIT V560GKITmissenseCOSM12601679T>G11
KIT V654AKITmissenseCOSM127061961T>C13
KIT W557RKITmissenseCOSM12191669T>C11
KIT Y553CKITmissenseUnknown
KIT M541LKITmissense10
KIT E554KKITmissense11
KIT exon(s) 11 anyKITany11
KIT exon(s) 17 anyKITany17
KIT codon(s) 560 anyKITany11
KIT codon(s) 822 anyKITany17
KIT exon(s) 9 deletionKITdeletion9
KIT exon(s) 9 insertionKITinsertion9
KIT exon(s) 8 missenseKITmissense8
KIT exon(s) 9 missenseKITmissense9
KIT exon(s) 10 missenseKITmissense10
KIT S501_A502insCLKITinsertion
KIT Y503_F504insSAKITinsertionCOSM2197861507_1508insCTGCCT9
KIT D579delKITdeletionCOSM12941735_1737delGAT11
KIT D820AKITmissenseCOSM1336702459A>C17
KIT D820EKITmissenseCOSM127092460T>A17
KIT D820GKITmissenseCOSM13162459A>G17
KIT E554_I571delKITdeletionCOSM362911660_1713del5411
KIT E554_K558delKITdeletionCOSM11921660_1674del1511
KIT T417_D419delinsRGKITindel
KIT T417_D419delinsIKITindel
KIT E554_V559delKITdeletion
KIT exon(s) 9 anyKITany9
KIT F522CKITmissense
KIT H697YKITmissense
KIT I563_L576delKITindel
KIT I653TKITmissense
KIT K550_W557delKITdeletion
KIT K558_E562delKITdeletion
KIT K558_V559delKITdeletion
KIT K558NKITmissense
KIT M552_W557delKITdeletion
KIT N505IKITmissense
KIT N564_Y578delKITdeletion
KIT N822YKITmissense
KIT N822HKITmissense
KIT N822IKITmissense
KIT P551_M552delKITdeletion
KIT P573_D579delKITdeletion
KIT P577_D579delKITdeletion
KIT P577_W582delinsPYDKITindel
KIT P838LKITmissense
KIT Q556_K558delKITdeletion
KIT V530IKITmissense
KIT V555_L576delKITdeletion
KIT V555_V559delKITdeletion
KIT V559_V560delKITdeletion
KIT V559DKITmissense
KIT V559GKITmissense
KIT V559CKITmissense
KIT V559delKITdeletion
KIT V569_L576delKITdeletion
KIT W557_K558delKITdeletion
KIT W557GKITmissense
KIT Y553_K558delKITdeletion
KIT Y553NKITmissense
KIT Y570HKITmissense
KIT Y578CKITmissense
KIT copy number gainKITCNV
KIT copy number lossKITCNV
KIT any mutationKITany
KIT D45NKITmissenseCOSM46042812
KIT G565VKITmissenseCOSM14451411
KIT D52NKITmissense2
KIT K807NKITmissense17
KIT C844YKITmissenseCOSM13378018

Interpretations

Sort by
Page
Show

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

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

Last updated: 2018-11-12 20:41:34 UTC
Read More
Tier 3
KIT
Variants
KIT M541L
Primary Sites
Stomach
Small Intestine
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

The M541L mutation has been implicated in hematological malignancies. It may help to identify a subgroup of cases who may benefit from low dose imatinib therapy. KIT mutations are also associated with Gastro Intestinal Stromal Tumors. The KIT variant M541L was originally thought to be associated with increased risk of certain tumors such as aggressive fibromatosis (AF; Dufresne et al., 2010). However, larger scale studies have shown that the prevalence of this mutation within AF does not differ from that of the general population and this variant was not found to be tumor-specific, classifying it as a single nucleotide polymorphism and non-pathogenic (Grabellus et al., 2011).

Last updated: 2016-10-11 21:40:16 UTC
Read More
Tier 1
KIT
Variants
KIT E554K
Primary Sites
Stomach
Small Intestine
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Approximately 50-60% of the oncogenic mutations in Gastrointestinal stromal tumors (GIST) are present in Exon 11 of the KIT gene. The E554K variant is present in Exon 11 of the KIT gene. Identification of GIST genotype is important given the availability of targeted therapy with KIT/PDGFRA tyrosine kinase inhibitors (eg, imatinib, sunitinib, etc).

Last updated: 2016-10-11 21:39:10 UTC
Read More
Tier 1
KIT
Variants
KIT V560D
KIT exon(s) 11 any
Primary Sites
Stomach
Small Intestine
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

KIT mutations occur in approximately 80% of patients with gastrointestinal stromal tumors. The major region of KIT mutation in GIST is within exon 11, occurring in about 65% of patients. KIT exon 11 mutations are activating mutations and are typically sensitive to treatment with Imatinib.

Last updated: 2016-10-11 21:39:37 UTC
Read More
Tier 1
KIT
Variants
KIT N822K
KIT exon(s) 17 any
Primary Sites
Anus
Tumor Types
Melanoma
Interpretation

KIT mutations occur in approximately 15-20% of patients with mucosal melanomas. The majority ofKIT mutations occur within exon 11 and they are less frequent in other exons. The N822K mutation in exon 17 occurs within the kinase domain of KIT. Mutant KIT proteins have increased kinase activity and transforming activity in vitro. Although KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib, there was no response to treatment noted in patients harboring mutations in exon 17 (Ref. 4).

Last updated: 2018-04-06 15:06:14 UTC
Read More
Tier 2
KIT
Variants
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

c-kit (CD117) is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Gain-of-function mutations of the c-kit gene have been identified that produce ligand-independent activation of c-kit and cell proliferation. Some of these mutations appear causative in the pathogenesis of adult mastocytosis and most gastrointestinal stromal tumors (GISTs). c-kit receptor and its ligand have been demonstrated in human colon cancer cell lines. Some studies have shown high frequency of c-Kit overexpression in stage II colon cancer patients (59.3%) with significant correlation between c-Kit overexpression and reduced disease free survival. However, other studies failed to demonstrate c-kit expression in a significant number of colorectal cancers suggesting that c-kit kinase activation is not a prominent pathogenetic feature of colorectal cancers. Role of c-Kit continues to be studied in colon cancers.

Last updated: 2016-05-05 13:42:01 UTC
Read More
Tier 1
KIT
Variants
KIT exon(s) 9 insertion
Primary Sites
Stomach
Small Intestine
Rectum
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

KIT mutations occur in approximately 85% of patients with gastrointestinal stromal tumors (GIST), while Exon 9 is mutated in approximately 10 ~ 15% of all KIT-mutated GIST. Compared to patients with KIT exon 11 mutations, patients with exon 9 mutations tumors show intermediate sensitivity to imatinib. Median duration of benefit from imatinib is approximately 7~12 months compared to 23 months for patients with exon 11 mutations. Patients with exon 9 mutations are more likely to respond to second line sunitinib than patients with other KIT/PDGFRA mutations.

Last updated: 2017-02-22 15:23:03 UTC
Read More
Tier 1
KIT
Variants
KIT V559A
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

KIT mutations are seen in up to 17% of cutaneous melanomas. The V559A mutation in exon 11 occurs within the juxtamembrane domain. In vitro studies have shown that mutant KIT proteins have increased kinase activity. KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib. There are multiple clinical trials available for patients with melanomas harboring KIT alterations.

Last updated: 2016-08-31 22:08:06 UTC
Read More
Tier 2
KIT
Variants
Primary Sites
Thymus
Tumor Types
Thymic Carcinoma
Interpretation

KIT is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Somatic mutations of KIT are only identified in ~ 4% of thymic carcinoma, but KIT protein overexpression has been observed in up to 88% of cases. Valine at amino acid position 560 (V560) is located in exon 11 within the juxtamembrane domain of KIT, and an in-frame deletion of V560 results in an activating mutation. A case report has described a patient with thymic carcinoma harboring KIT V560del who had a partial response to imatinib. In another case, patient who has kit mutation in his thymic carcinoma achieved 27 moths of disease control with imatinib followed by sunitinib. Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2017-03-14 02:16:03 UTC
Read More
Tier 1
KIT
Variants
Primary Sites
Brain
Brain, Infratentorial
Brain, Supratentorial
Tumor Types
Glioblastoma
Neuroblastoma
Astrocytoma, Anaplastic
Oligodendroglioma
Ependymoma
Ependymoma, Anaplastic
Interpretation

In AML, presence of exon 17 mutations in KIT may confer an adverse prognosis or increased relapse rate. However, its significance in brain tumors is yet to be determined.

Last updated: 2017-01-20 03:37:57 UTC
Read More
Tier 1
KIT
Variants
Primary Sites
Kidney
Tumor Types
Renal Cell Carcinoma
Interpretation

In AML, presence of exon 17 mutations in KIT may confer an adverse prognosis or increased relapse rate. However, its significance in renal cancer is yet to be determined.

Last updated: 2017-01-20 03:38:15 UTC
Read More
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
Read More
Tier 2
KIT
Variants
Primary Sites
Esophagus
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 esophageal cancers are relatively rare, observed in up to 3.3% of the cases. The predictive and prognostic significance of KIT mutations in esophageal cancers needs further elucidation. Results should be interpreted in conjunction with other laboratory and clinical findings.

Last updated: 2017-02-21 13:37:50 UTC
Read More
Tier 1
KIT
Variants
KIT V654A
Primary Sites
Small Intestine
Stomach
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

The V654A c-KIT kinase domain mutation has been associated with imatinib-resistant GIST relapse, representing about 47% of all GIST secondary mutations. GIST harboring KIT V654A is still sensitive to Sunitinib and Sorafenib. drug: Nilotinib, Sunitinib

Last updated: 2018-04-18 14:21:29 UTC
Read More
Tier 2
KIT
Variants
KIT copy number gain
KIT copy number loss
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
Peritoneal fluid
Pleural Fluid
Tongue
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
Hurthle Cell Carcinoma
High Grade Glioma
Undifferentiated Sarcoma
Glioma
Interpretation

This gene is a known cancer gene.

Last updated: 2019-08-28 14:53:57 UTC
Read More
Tier 2
KIT
Variants
KIT 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
Peritoneal fluid
Pleural Fluid
Tongue
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
Hurthle Cell Carcinoma
High Grade Glioma
Undifferentiated Sarcoma
Glioma
Interpretation

This gene is a known cancer gene.

Last updated: 2019-08-28 14:53:59 UTC
Read More
Tier 1
KIT
Variants
KIT W557_K558del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Nilotinib Dasatinib Sorafenib Imatinib

Last updated: 2018-03-16 15:04:47 UTC
Read More
Tier 1
KIT
Variants
KIT E554_I571del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-06 15:14:54 UTC
Read More
Tier 1
KIT
Variants
KIT D820Y
KIT D820A
KIT D820E
KIT D820G
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sorafenib

Last updated: 2018-04-06 15:15:16 UTC
Read More
Tier 1
KIT
Variants
KIT D816F
KIT D816V
KIT D816Y
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Dasatinib Nilotinib

Last updated: 2018-04-06 15:15:55 UTC
Read More
Tier 1
KIT
Variants
KIT D419del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-06 15:16:13 UTC
Read More
Tier 1
KIT
Variants
KIT T417_D419delinsRG
KIT T417_D419delinsI
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-06 15:21:56 UTC
Read More
Tier 1
KIT
Variants
KIT I653T
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-06 15:22:48 UTC
Read More
Tier 1
KIT
Variants
KIT H697Y
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-06 15:23:14 UTC
Read More
Tier 1
KIT
Variants
KIT exon(s) 9 any
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib Sunitinib Imatinib

Last updated: 2018-04-06 15:37:16 UTC
Read More
Tier 1
KIT
Variants
KIT K550_W557del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib Sunitinib Imatinib

Last updated: 2018-04-18 13:04:32 UTC
Read More
Tier 1
KIT
Variants
KIT F522C
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:05:06 UTC
Read More
Tier 1
KIT
Variants
KIT P573_D579del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:07:20 UTC
Read More
Tier 1
KIT
Variants
KIT N822I
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Dasatinib

Last updated: 2018-04-18 13:07:33 UTC
Read More
Tier 1
KIT
Variants
KIT N822Y
KIT N822H
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:08:32 UTC
Read More
Tier 1
KIT
Variants
KIT P551_M552del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 13:09:11 UTC
Read More
Tier 1
KIT
Variants
KIT K642E
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Nilotinib Sorafenib Imatinib

Last updated: 2018-04-18 13:09:46 UTC
Read More
Tier 1
KIT
Variants
KIT K558N
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:09:58 UTC
Read More
Tier 1
KIT
Variants
KIT L576P
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Nilotinib Dasatinib Sunitinib Imatinib

Last updated: 2018-04-18 13:16:16 UTC
Read More
Tier 1
KIT
Variants
KIT K642E
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sorafenib

Last updated: 2018-04-18 13:18:43 UTC
Read More
Tier 1
KIT
Variants
KIT L576P
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 13:18:59 UTC
Read More
Tier 1
KIT
Variants
KIT L576P
Primary Sites
Unknown
Tumor Types
Melanoma
Interpretation

Imatinib

Last updated: 2018-04-18 13:19:13 UTC
Read More
Tier 1
KIT
Variants
KIT K642E
Primary Sites
Unknown
Tumor Types
Melanoma
Interpretation

Imatinib

Last updated: 2018-04-18 13:19:28 UTC
Read More
Tier 1
KIT
Variants
KIT M552_W557del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:19:42 UTC
Read More
Tier 1
KIT
Variants
KIT K558_E562del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:20:05 UTC
Read More
Tier 1
KIT
Variants
KIT N564_Y578del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:20:21 UTC
Read More
Tier 1
KIT
Variants
KIT N822K
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib

Last updated: 2018-04-18 13:20:51 UTC
Read More
Tier 1
KIT
Variants
KIT I563_L576del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:21:09 UTC
Read More
Tier 1
KIT
Variants
KIT V555_V559del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:22:29 UTC
Read More
Tier 1
KIT
Variants
KIT V555_L576del
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 13:22:42 UTC
Read More
Tier 1
KIT
Variants
KIT V555_L576del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Sunitinib Imatinib Nilotinib

Last updated: 2018-04-18 13:23:34 UTC
Read More
Tier 1
KIT
Variants
KIT V530I
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:23:44 UTC
Read More
Tier 1
KIT
Variants
KIT Q556_K558del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:24:21 UTC
Read More
Tier 1
KIT
Variants
KIT P838L
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:24:32 UTC
Read More
Tier 1
KIT
Variants
KIT P577_W582delinsPYD
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 13:24:45 UTC
Read More
Tier 1
KIT
Variants
KIT P577_D579del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Thymic Carcinoma
Interpretation

Sorafenib

Last updated: 2018-04-18 13:24:57 UTC
Read More
Tier 1
KIT
Variants
KIT N505I
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Gastrointestinal Stromal Tumor
Interpretation

Sorafenib

Last updated: 2018-04-18 13:25:13 UTC
Read More
Tier 1
KIT
Variants
KIT K558_V559del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-12-13 21:08:02 UTC
Read More
Tier 1
KIT
Variants
KIT exon(s) 11 any
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 14:13:52 UTC
Read More
Tier 1
KIT
Variants
KIT E554_K558del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Thymic Carcinoma
Interpretation

Sunitinib Imatinib

Last updated: 2018-04-18 14:14:04 UTC
Read More
Tier 1
KIT
Variants
KIT D820Y
KIT D820G
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Nilotinib Dasatinib Sorafenib Regorafenib Sunitinib

Last updated: 2018-04-18 14:14:16 UTC
Read More
Tier 1
KIT
Variants
KIT K550_W557del
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 14:20:30 UTC
Read More
Tier 1
KIT
Variants
KIT V560D
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib Sunitinib Imatinib

Last updated: 2018-04-18 14:21:07 UTC
Read More
Tier 1
KIT
Variants
KIT V559D
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib Nilotinib Dasatinib Sorafenib

Last updated: 2018-04-18 14:23:45 UTC
Read More
Tier 1
KIT
Variants
KIT Y578C
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:43:19 UTC
Read More
Tier 1
KIT
Variants
KIT Y570H
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:43:42 UTC
Read More
Tier 1
KIT
Variants
KIT Y553_K558del
KIT Y553N
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:43:51 UTC
Read More
Tier 1
KIT
Variants
KIT W557R
KIT W557G
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:44:01 UTC
Read More
Tier 1
KIT
Variants
KIT W557_K558del
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sorafenib

Last updated: 2018-04-18 14:44:19 UTC
Read More
Tier 1
KIT
Variants
KIT V654A
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 14:44:27 UTC
Read More
Tier 1
KIT
Variants
KIT V569_L576del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:45:40 UTC
Read More
Tier 1
KIT
Variants
KIT V560G
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib Dasatinib

Last updated: 2018-04-18 14:45:51 UTC
Read More
Tier 1
KIT
Variants
KIT V559del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:46:23 UTC
Read More
Tier 1
KIT
Variants
KIT V559G
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:46:32 UTC
Read More
Tier 1
KIT
Variants
KIT V559D
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sorafenib

Last updated: 2018-04-18 14:46:40 UTC
Read More
Tier 1
KIT
Variants
KIT V559C
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib Nilotinib

Last updated: 2018-04-18 14:46:49 UTC
Read More
Tier 1
KIT
Variants
KIT V559_V560del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 14:46:57 UTC
Read More
Tier 1
KIT
Variants
KIT D579del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Thymic Carcinoma
Interpretation

Sunitinib Imatinib

Last updated: 2018-04-18 14:47:57 UTC
Read More
Tier 1
KIT
Variants
KIT exon(s) 9 any
Primary Sites
Unknown
Tumor Types
Thymic Carcinoma
Interpretation

Sunitinib

Last updated: 2018-04-18 18:20:27 UTC
Read More
Tier 1
KIT
Variants
KIT E554_V559del
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Imatinib

Last updated: 2018-04-18 18:20:41 UTC
Read More
Tier 3
KIT
Variants
KIT D45N
Primary Sites
Brain
Tumor Types
Glioblastoma
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. KIT is found in approximately 1% of glioblastomas. The KIT D45N variant is in the extracellular domain, however, its effect on protein function is unknown. The clinical significance of KIT in glioblastoma and the clinicopathologic effect of this variant remains to be further elucidated.

Last updated: 2018-06-13 18:57:34 UTC
Read More
Tier 2
KIT
Variants
KIT K807N
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

KIT (CD117) is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Gain-of-function mutations of the KIT gene have been identified that produce ligand-independent activation of KIT and cell proliferation. KIT receptor and its ligand have been demonstrated in human colon cancer cell lines. Some studies have shown high frequency of KIT overexpression in stage II colon cancer patients (59.3%) with significant correlation between KIT overexpression and reduced disease free survival. However, other studies failed to demonstrate KIT expression in a significant number of colorectal cancers suggesting that KIT kinase activation is not a prominent pathogenetic feature of colorectal cancers. Role of KIT continues to be studied in colon cancers. KIT K807N missense mutation is known to be oncogenic. Several tyrosine kinase inhibitors against KIT are available, mainly for gastrointestinal stromal tumors and melanoma. The role of these targeted therapies in colorectal carcinomas need to be further elucidated.

Last updated: 2019-01-22 18:33:05 UTC
Read More
Tier 2
KIT
Variants
KIT D52N
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

The proto-oncogene KIT encodes a type 3 transmembrane receptor tyrosine kinase. c-kit (CD117) is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Gain-of-function mutations of the c-kit gene have been identified that produce ligand-independent activation of c-kit and cell proliferation. Some of these mutations appear causative in the pathogenesis of adult mastocytosis and most gastrointestinal stromal tumors (GISTs). Activating KIT mutations occur in 80 - 90% of GISTs and several small molecule tyrosine kinase inhibitors (TKIs) targeting KIT that have been approved by the US Food and Drug Administration with the efficacy of each TKI strongly depending on the location of the activating KIT mutation. c-kit receptor and its ligand have been demonstrated in human colon cancer cell lines. Some studies have shown high frequency of c-Kit overexpression in stage II colon cancer patients (59.3%) with significant correlation between c-Kit overexpression and reduced disease free survival. However, other studies failed to demonstrate c-kit expression in a significant number of colorectal cancers suggesting that c-kit kinase activation is not a prominent pathogenetic feature of colorectal cancers. The role of c-Kit continues to be studied in colon cancers. The KIT D52N mutation likely represent an oncogenic gain of function mutation.

Last updated: 2019-01-22 18:40:30 UTC
Read More
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
Read More
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
Read More
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


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use