Gene

KIT

KIT proto-oncogene, receptor tyrosine kinase

Explore in graph →CI-GENE-00006972HGNC:6342 ENSG00000157404 NCBI 3815 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (312)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–50 of 312 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
KIT Fusion1
(oncogenic)	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Oncogenic	D	Supports Oncogenicity	4	submitted

Cohorts

Alteration frequency by cohort (130)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved130 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Gastrointestinal Stromal Tumor (MSK 2025) gist_msk_2025	Gastrointestinal Stromal Tumor	Ssm	174	183	95.1%

Literature

Linked publications (44)

25 per page, newest first.

pubmedPublishedShowing 1–25 of 44 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.
· J Clin Oncol · 2003 · PMID 14645423 · validated civic_curation pubmed
KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours.
· Eur J Cancer · 2006 · PMID 16624552 · validated civic_curation pubmed
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
· J Clin Oncol · 2006 · PMID 16954519 · validated civic_curation pubmed
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.
· Blood · 2006 · PMID 16384925 · validated civic_curation pubmed

KIT 557/558 in-frame deletion/delins1
Imatinib	Gastrointestinal Stromal Tumor	Predictive	B	Supports Reduced Sensitivity	3	submitted	EID12935 Gastrointestinal stromal tumor patients with KIT exon 11 mutations were stratified based on the location of their pathogenic variant in exon 11 and those with a deletion or deletion/insertion of codon… (full text at CIViC) PMID 33673554 · Incorvaia et al., 2021 · Open in CIViC	civic

KIT 557/558 in-frame deletion/delins1

Imatinib

Gastrointestinal Stromal Tumor

Predictive

Supports Reduced Sensitivity

submitted

EID12935

Gastrointestinal stromal tumor patients with KIT exon 11 mutations were stratified based on the location of their pathogenic variant in exon 11 and those with a deletion or deletion/insertion of codon… (full text at CIViC)

PMID 33673554 · Incorvaia et al., 2021 · Open in CIViC

KIT A502_Y503dup2
Imatinib + Ponatinib + RegorafenibSubstitutes	Gastrointestinal Stromal Tumor	Predictive	D	Does Not Support Sensitivity Response	3	accepted	EID4630 In an in vitro study, an IL-3-independent Ba/F3 cell line expressing the KIT exon 9 A502_Y503dup primary activating mutation demonstrated reduced sensitivity to regorafenib (IC50: 138 nmol/L), imatini… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Sunitinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	3	submitted	EID4506 In an in vitro study, a Ba/F3 cell line expressing KIT A502_Y503dup (502AY in the paper) mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 5nM) similar to Ba/F3 cells ex… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

KIT A502_Y503insAY3
Imatinib	Malignant NeoplasmALIAS	Predictive	D	Supports Resistance	2	submitted	EID4505 In an in vitro study, Chinese hamster ovary cells expressing KIT A502_Y503INSAY demonstrated comparable resistance to imatinib treatment compared to CHO cells expressing ligand activated wild-type KIT… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
Sunitinib	Malignant NeoplasmALIAS	Predictive	D	Does Not Support Resistance	2	accepted	EID4100 In an in vitro study, Chinese hamster ovary cells expressing KIT A502_Y503INSAY demonstrated comparable sensitivity to sunitinib treatment compared to CHO cells expressing ligand activated wild-type K… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Predictive	D	Supports Sensitivity Response	2	accepted	EID7392 In an in vitro study, an IL3 independant Ba/F3 cell line expressing KIT V560D primary activating mutation demonstrated sensitivity to sunitinib treatment (IC50: 5nmol/L). IC50 was determined by assess… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

KIT A829P3
Ponatinib	Gastrointestinal Stromal Tumor	Predictive	D	Does Not Support Resistance	4	accepted	EID7413 Ponatinib possesses potent activity against A829P KIT mutant cells in preclinical experiments. A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with repre… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	3	submitted	EID5862 Ponatinib possesses potent activity against most major clinically-relevant KIT mutants, and has demonstrated preliminary evidence of activity in patients with refractory GIST. These data strongly supp… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Imatinib + SunitinibSubstitutes	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	4	accepted	EID7415 Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with representative primary sunitinib and imatinib sensitizing mutation del 557-558, whi… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

KIT Amplification2
Imatinib	Mucosal Melanoma	Predictive	B	Supports Resistance	3	accepted	EID1466 Phase 2 trial in metastatic mucosal, acral or chronically sun-damaged melanoma. Twenty-five patients were enrolled (24 evaluable). Eight patients (33%) had tumors with KIT mutations, 11 (46%) with KIT… (full text at CIViC) PMID 23775962 · Hodi et al., 2013 · Open in CIViC	civic
Nilotinib	Melanoma	Predictive	B	Supports Resistance	3	submitted	EID5907 This phase II trial showed that nilotinib demonstrates response in a subset of melanoma patients (acral and mucosal subtypes) with KIT mutations. Median duration of response was 34 weeks. Of the 42 pa… (full text at CIViC) PMID 26424760 · Lee et al., 2015 · Open in CIViC	civic

KIT D419del2
(predisposing)	Gastrointestinal Stromal Tumor	Predisposing	C	N/A N/A	3	submitted	EID9295 A novel germline KIT variant, D419del, was discovered in a family with mastocytosis. Case 1, a 60 year old German woman, also had a gastrointestinal stromal tumor (GIST) and dysphagia. Case 2, her 38 … (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC	civic
Imatinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	3	submitted	EID1962 Family with both familial GISTs and mastocytosis expressed a novel germline KIT mutation in exon 8 (p.419del) affecting the extracellular domain of KIT. This mutation activates KIT, and the mutant KIT… (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC	civic

KIT D816G3
Crizotinib	Lung Adenocarcinoma	Predictive	C	Supports Resistance	—	submitted	EID4158 In a stage IV lung adenocarcinoma patient harboring a KIT D816G mutation, the KIT D816G mutation was associated with crizotinib resistance. The patient was initially found to harbor a ROS1 gene rearra… (full text at CIViC) PMID 27068398 · Dziadziuszko et al., 2016 · Open in CIViC	civic
Ponatinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	4	submitted	EID7410 Ponatinib possesses potent activity against D816G KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Regorafenib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	2	submitted	EID4157 In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D816G secondary mutation, KIT D816G was associated with decrea… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

KIT D816H7
Bosutinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	—	submitted	EID4153 In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 32nM), as compared to wild-type KIT (IC50: 6313 nM). Sensitivit… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
Dasatinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	—	submitted	EID4154 In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to dasatinib treatment(IC50: 2.6nM vs. 93.0nM), as compared to the wild-type KIT kinase. Sensi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
Imatinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	3	accepted	EID2923 147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC	civic
Imatinib Mesylate	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Resistance	3	submitted	EID6957 whereas cells from a patient with t(8;21) and D816H type mC-KIT were resistant to Gleevec but sensitive to Ara-C (Fig. 4E). PMID 15650049 · Wang et al., 2005 · Open in CIViC	civic
Ponatinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	4	submitted	EID7409 Ponatinib possesses potent activity against D816H KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Regorafenib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	3	submitted	EID4152 In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT D816H secondary mutation, KIT D816H was associated with decreased… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
Sunitinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	—	submitted	EID4151 In an in vitro study, a 32D cell line expressing KIT D816H mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 17.5nM) similar to 32D cells expressing KIT wild-type (overe… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC	civic

KIT D816V17
(prognostic)	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	accepted	EID26 In acute myloid leukemia patients, D816 mutation is associated with earlier relapse and poorer prognosis than wildtype KIT. PMID 16384925 · Cairoli et al., 2006 · Open in CIViC	civic
〃	Systemic Mastocytosis	Prognostic	B	Supports Poor Outcome	4	accepted	EID1726 The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patient… (full text at CIViC) PMID 26464169 · Jawhar et al., 2016 · Open in CIViC	civic
(oncogenic)	Systemic Mastocytosis	Oncogenic	D	Supports Oncogenicity	4	submitted	EID12411 The authors studied the role of the KIT D816V variant in promoting inflammation in systemic mastocytosis. They used patients’ bone marrow-derived mast cells, as well as mouse mast cell line (MCBS1, en… (full text at CIViC) PMID 30948489 · Tobío et al., 2020 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID11369 In this preclinical study, FDC-PI cells were infected with retroviruses encoding human wild-type KIT (WTKit), V560G mutation (V560GKit), or D816V mutation (D816VKit). Growth of WTKit cells was inhibit… (full text at CIViC) PMID 12481435 · Frost et al., 2002 · Open in CIViC	civic
(oncogenic)	Acute Myeloid LeukemiaCURATED_BROADER	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12410 The authors studied the role of KIT D816V in acute myeloid leukemia (AML) using engineered TF-1 cells to express either wild-type KIT or KIT D816V. They discovered that KIT D816V led to constitutive a… (full text at CIViC) PMID 31311917 · Larrue et al., 2019 · Open in CIViC	civic
〃	Systemic Mastocytosis	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12913 In this study, the authors investigated pediatric mastocytosis and compared the functional properties of KIT extracellular domain (ECD) variants with phosphotransferase domain (PTD) variants, includin… (full text at CIViC) PMID 20484085 · Yang et al., 2010 · Open in CIViC	civic
〃	Systemic Mastocytosis	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12914 In this study, the authors analyzed the functional consequences of the KIT D816V variant in murine hematopoietic progenitor cells (MIHCs). MIHCs expressing KIT D816V exhibited factor-independent growt… (full text at CIViC) PMID 11520784 · Chian et al., 2001 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	3	submitted	EID12915 In this computational study, the authors analyzed the structural and dynamic effects of the KIT D816V variant in the cytoplasmic tyrosine kinase domain using molecular dynamics simulations, normal mod… (full text at CIViC) PMID 21698178 · Laine et al., 2011 · Open in CIViC	civic
(oncogenic)	Systemic Mastocytosis	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12916 In this study, the authors evaluated a panel of activating KIT variants, including KIT D816V, for their transforming capacity and downstream signaling in hematologic malignancies associated with syste… (full text at CIViC) PMID 15790786 · Growney et al., 2005 · Open in CIViC	civic
〃	Systemic Mastocytosis	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12917 In this study, the authors investigated the structural and functional effects of the KIT D816V variant using molecular modeling, molecular dynamics simulations, docking studies, and Ba/F3 cell-based a… (full text at CIViC) PMID 16190746 · Vendôme et al., 2005 · Open in CIViC	civic
Avapritinib	Systemic Mastocytosis	Predictive	A	Supports Sensitivity Response	4	submitted	EID11274 In this phase I, open-label, dose-escalation trial, 86 patients (n = 69 had AdvSM n = 14 had indolent SM, n = 2 had smoldering SM, and n = 1 had chronic myelomonocytic leukemia) were enrolled. 36 pati… (full text at CIViC) PMID 34873347 · DeAngelo et al., 2021 · Open in CIViC	civic
Bosutinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Resistance	—	submitted	EID4161 In an in vitro study, the recombinant KIT D816V mutation kinase was associated with insensitivity to bosutinib treatment (IC50: 2772nM), comparable to wild-type KIT kinase (IC50: 6313nM). Resistance w… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
Dasatinib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	C	Supports Sensitivity Response	—	submitted	EID4159 In a systemic mastocytosis (SM) and acute myelogeneous leukemia (AML) patient harboring KIT D816V mutation, KIT D816V was associated with improved response to dasatinib therapy. The patient initially … (full text at CIViC) PMID 18986703 · Ustun et al., 2009 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	4	submitted	EID8361 In the HMC-1 human cell line, cells with KIT V560G activating mutation were treated with dasatinib and showed reduced levels of phospho-KIT, potent growth inhibition, and increased Annexin V binding a… (full text at CIViC) PMID 16434489 · Shah et al., 2006 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	—	submitted	EID4162 In an in vitro study, the recombinant KIT D816V mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 37nM vs. 79nM), as compared to wild-type KIT kinase. Sensitivity… (full text at CIViC) PMID 16434489 · Shah et al., 2006 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	—	submitted	EID4163 In an in vitro study, the recombinant KIT D816V mutation kinase was associated with sensitivity to dasatinib treatment. PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
Imatinib	Systemic Mastocytosis	Predictive	B	Supports Resistance	3	accepted	EID11160 In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were enrolled between 2003 and 2005 and treated with imatinib mesylate. Thirteen of the 20 patients were positive for the… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC	civic