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 301–312 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 Y553_W557DELYEVQW1
Sunitinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Sensitivity Response	—	submitted	EID4577

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 Y570_L576DEL2
Sunitinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	—	submitted	EID4586 In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	—	submitted	EID4587 In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC	civic

KIT Y570_L576DEL2

Sunitinib

Gastrointestinal Stromal Tumor

Predictive

Supports Resistance

—

submitted

EID4586

In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

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〃

Gastrointestinal Stromal Tumor

Predictive

Supports Resistance

—

submitted

EID4587

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · Open in CIViC

civic

KIT Y823D1
Imatinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	3	accepted	EID2919 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

KIT Y823D1

Imatinib

Gastrointestinal Stromal Tumor

Predictive

Supports Resistance

accepted

EID2919

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

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KIT D816V3
Imatinib	Systemic Mastocytosis	Predictive	B	Supports Sensitivity Response	3	accepted	EID11158 In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were recruited between 2003 and 2005. Seven of 20 patients were KIT D816V mutation-negative. Among these, one patient wit… (full text at CIViC) PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC	civic
Imatinib Mesylate	Systemic Mastocytosis	Predictive	C	Supports Sensitivity Response	2	submitted	EID11367 In this case report, a 24-year-old female patient with systemic mastocytosis (SM) and without KIT D816V mutation was treated with imatinib at a 400mg dose/daily. The patient showed excellent clinical… (full text at CIViC) PMID 27741105 · Huang et al., 2016 · Open in CIViC	civic
〃	Systemic Mastocytosis	Predictive	C	Supports Sensitivity Response	1	submitted	EID11164 In this case report, a 56 y/o female patient with normal karyotyping and no KIT mutation was diagnosed with systemic mastocytosis associated with MDS/MPN . Treatment with imatinib was initiated at a d… (full text at CIViC) PMID 35096623 · Barozzi et al., 2021 · Open in CIViC	civic

KIT D816V3

Imatinib

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

accepted

EID11158

In this open-label phase II study, 20 patients with systemic mastocytosis (SM) were recruited between 2003 and 2005. Seven of 20 patients were KIT D816V mutation-negative. Among these, one patient wit… (full text at CIViC)

PMID 19193436 · Vega-Ruiz et al., 2009 · Open in CIViC

civic

Imatinib Mesylate

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11367

In this case report, a 24-year-old female patient with systemic mastocytosis (SM) and without KIT D816V mutation was treated with imatinib at a 400mg dose/daily. The patient showed excellent clinical… (full text at CIViC)

PMID 27741105 · Huang et al., 2016 · Open in CIViC

civic

〃

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11164

In this case report, a 56 y/o female patient with normal karyotyping and no KIT mutation was diagnosed with systemic mastocytosis associated with MDS/MPN . Treatment with imatinib was initiated at a d… (full text at CIViC)

PMID 35096623 · Barozzi et al., 2021 · Open in CIViC

civic

KIT D816V + KIT F522C1
Imatinib Mesylate	Systemic Mastocytosis	Predictive	C	Supports Sensitivity Response	3	submitted	EID11366 In this case report, a 25-year-old female patient, with a history of cutaneous mastocytosis at age 5 months, was presented for evaluation of systemic mastocytosis (SM). The patient went through 5 mon… (full text at CIViC) PMID 15070706 · Akin et al., 2004 · Open in CIViC	civic

KIT D816V + KIT F522C1

Imatinib Mesylate

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11366

In this case report, a 25-year-old female patient, with a history of cutaneous mastocytosis at age 5 months, was presented for evaluation of systemic mastocytosis (SM). The patient went through 5 mon… (full text at CIViC)

PMID 15070706 · Akin et al., 2004 · Open in CIViC

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KIT D816F + KIT D816V + KIT D816Y + KIT V560G3
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	2	submitted	EID11161 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic
Imatinib Mesylate	Systemic Mastocytosis	Predictive	B	Supports Sensitivity Response	3	submitted	EID11163 In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC) PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC	civic
〃	Systemic Mastocytosis	Predictive	D	Supports Sensitivity Response	3	submitted	EID11162 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic

KIT D816F + KIT D816V + KIT D816Y + KIT V560G3

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID11161

In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC)

PMID 11861291 · Ma et al., 2002 · Open in CIViC

civic

Imatinib Mesylate

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11163

In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC)

PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC

civic

〃

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11162

PMID 11861291 · Ma et al., 2002 · Open in CIViC

civic

KIT D816V + PDGFRB FusionKIT PDGFRB1
Imatinib Mesylate	Systemic Mastocytosis	Predictive	C	Supports Sensitivity Response	3	submitted	EID11368 In this case report, a 61 yearl-old male patient was diagnosed with systemic mastocytosis (SM). Genetic screening for KIT mutaitons, including the D816V mutation, was negative. FISH analysis showed a … (full text at CIViC) PMID 18166785 · Lahortiga et al., 2008 · Open in CIViC	civic

KIT D816V + PDGFRB FusionKIT PDGFRB1

Imatinib Mesylate

Systemic Mastocytosis

Predictive

Supports Sensitivity Response

submitted

EID11368

In this case report, a 61 yearl-old male patient was diagnosed with systemic mastocytosis (SM). Genetic screening for KIT mutaitons, including the D816V mutation, was negative. FISH analysis showed a … (full text at CIViC)

PMID 18166785 · Lahortiga et al., 2008 · Open in CIViC

civic