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 151–200 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 Mutation2
Ripretinib	Gastrointestinal Stromal Tumor	Predictive	A	Supports Sensitivity Response	4	submitted	EID11284

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 26–44 of 44 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Thymic carcinoma with overexpression of mutated KIT and the response to imatinib.
· N Engl J Med · 2004 · PMID 15201427 · validated civic_curation pubmed
Major response to imatinib mesylate in KIT-mutated melanoma.
· J Clin Oncol · 2008 · PMID 18421059 · validated civic_curation pubmed
Sunitinib therapy for melanoma patients with KIT mutations.
· Clin Cancer Res · 2012 · PMID 22261812 · validated civic_curation pubmed
KIT as a therapeutic target in metastatic melanoma.
· JAMA · 2011 · PMID 21642685 · validated civic_curation pubmed
Ten Years of Treatment with 400 mg Imatinib per Day in a Case of Advanced Gastrointestinal Stromal Tumor.

KIT N505I1
Imatinib + SorafenibSubstitutes	Cutaneous MelanomaALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID8962 In a BRAF, NRAS-wt acral melanoma patient, KIT c.1514A>T point mutation (N505I) has been identified and its in-vitro constitutive activity and sensitivity to imatinib and sorafenib demonstrated. PMID 24317392 · Allegra et al., 2014 · Open in CIViC	civic

KIT N505I1

Imatinib + SorafenibSubstitutes

Cutaneous MelanomaALIAS

Predictive

Supports Sensitivity Response

submitted

EID8962

In a BRAF, NRAS-wt acral melanoma patient, KIT c.1514A>T point mutation (N505I) has been identified and its in-vitro constitutive activity and sensitivity to imatinib and sorafenib demonstrated.

PMID 24317392 · Allegra et al., 2014 · Open in CIViC

KIT N822K11
Imatinib	Gastrointestinal Stromal Tumor	Predictive	C	Supports Resistance	3	accepted	EID2918 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
〃	Malignant NeoplasmALIAS	Predictive	D	Does Not Support Sensitivity Response	2	accepted	EID2448 In an in vitro study of imatinib sensitivity, KIT N822K was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the plasmid… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic
Imatinib Mesylate	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	submitted	EID6958 Finally, although reports suggested and our study confirmed that D816 mutations were resistant to Gleevec (26), our results clearly show that t(8;21) leukemic cells carrying N822K mC-KIT, the most fre… (full text at CIViC) PMID 15650049 · Wang et al., 2005 · Open in CIViC	civic
Ponatinib	Gastrointestinal Stromal Tumor	Predictive	D	Supports Sensitivity Response	4	submitted	EID7408 Ponatinib possesses potent activity against N882K KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Does Not Support Resistance	3	accepted	EID4167 A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with primary ponatinib-sensitizing del 557-558 mutation, which induced IL-3 independent growth, and secon… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	accepted	EID7379 In this preclinial trial, the AML cell line Kasumi-1 with c-KIT N822K mutation was treated with Ponatinib. This drug effectively inhibits both KIT phosphorylation and viability for Kasumi-1 cells at I… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic
Regorafenib Anhydrous	Gastrointestinal Stromal Tumor	Predictive	C	Supports Sensitivity Response	2	accepted	EID4595 This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC	civic
Sorafenib + SunitinibSubstitutes	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Does Not Support Sensitivity Response	3	accepted	EID7370 In a preclinical trial, the AML cell line Kasumi-1 with the KIT mutation N822K was treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more effect… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic
Sunitinib	Acute Myeloid LeukemiaCURATED_BROADER	Predictive	D	Does Not Support Sensitivity Response	3	rejected	EID7371 In a preclinical trial, Kasumi-1 AML cell lines with the KIT mutation N822K were treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more effectiv… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	—	submitted	EID4166 In an in vitro study, a 32D cell line expressing KIT N822K mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 37.0nM) compared to 32D cells expressing wild-type K… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC	civic
〃	Gastrointestinal Stromal Tumor	Predictive	D	Supports Resistance	—	submitted	EID4168 In an in vitro study, a 32D cell line expressing KIT N822K mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 37.0nM) compared to 32D cells expressing wild-type K… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC	civic

KIT S628N3
(oncogenic)	Malignant NeoplasmALIAS	Oncogenic	D	Supports Oncogenicity	4	submitted	EID7462 WT and S628N KIT were expressed in COS-7 cells. Both cell types were treated with or without Stem Cell Factor (SCF), which induces KIT autophosphorylation (activation). In western blots, WT KIT was ph… (full text at CIViC) PMID 25317746 · Vita et al., 2014 · Open in CIViC	civic
Dasatinib + ImatinibSubstitutes	Malignant NeoplasmALIAS	Predictive	D	Supports Sensitivity Response	2	accepted	EID4791 In an in vitro study, COS-7 cells expressing KIT S628N activating mutation demonstrated sensitivity to imatinib and dasatinib treatments when compared to the KIT L576P, which was used as an imatinib-s… (full text at CIViC) PMID 25317746 · Vita et al., 2014 · Open in CIViC	civic
Imatinib	Melanoma	Predictive	C	Does Not Support Sensitivity Response	3	accepted	EID7463 A melanoma patient harboring the KIT S628N activating mutation underwent second-line imatinib therapy following lung metastatic progression that appeared after an eighth cycle of chemotherapy. The S62… (full text at CIViC) PMID 25317746 · Vita et al., 2014 · Open in CIViC	civic