Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST. 19453770

2009
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. 17824795

2007
dbSNP: rs121913512
rs121913512
KIT
G 0.760 GeneticVariation CLINVAR We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. 17824795

2007
dbSNP: rs121913512
rs121913512
KIT
G 0.760 GeneticVariation CLINVAR To investigate the function of activated c-KIT in GIST, we established a human GIST cell line, GIST882, which expresses an activating KIT mutation (K642E) in the first part of the cytoplasmic split tyrosine kinase domain. 11526490

2001
dbSNP: rs121913516
rs121913516
KIT
0.750 GeneticVariation BEFREE In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants <i>in vitro</i> and <i>in vivo</i> GIST preclinical models. 31205508

2019
dbSNP: rs121913516
rs121913516
KIT
0.750 GeneticVariation BEFREE Compound 24 displays good antiproliferative effects against c-KIT T670I mutant-driven GIST cell lines (GIST-T1/T670I and GIST-5R) and also exhibits suitable in vivo pharmacokinetic profiles as well as dose-dependent antitumor efficacy. 31046271

2019
dbSNP: rs121913516
rs121913516
KIT
0.750 GeneticVariation BEFREE These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively. 29100343

2017
dbSNP: rs121913516
rs121913516
KIT
0.750 GeneticVariation BEFREE Compound 35 displayed strong antiproliferative effect against GISTs cancer cell lines GIST-T1 (cKIT wt, GI50 = 4 nM) and GIST-5R (cKIT T670I, GI50 = 26 nM). 27545040

2016
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR KRAS and KIT Gatekeeper Mutations Confer Polyclonal Primary Imatinib Resistance in GI Stromal Tumors: Relevance of Concomitant Phosphatidylinositol 3-Kinase/AKT Dysregulation. 24687822

2015
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913516
rs121913516
KIT
0.750 GeneticVariation BEFREE Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML). 23773153

2013
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants. 15685537

2005
dbSNP: rs121913516
rs121913516
KIT
T 0.750 GeneticVariation CLINVAR A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. 15236194

2004
dbSNP: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE Although targeted therapy involving tyrosine kinase inhibitors (TKIs) such as imatinib mesylate is highly effective for gastrointestinal stromal tumor carrying V560G c-kit mutation, it does not show much potential for targeting wild-type KIT (WT-KIT). 26428235

2016
dbSNP: rs121913521
rs121913521
KIT
A 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913521
rs121913521
KIT
G 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913521
rs121913521
KIT
A 0.740 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557

2009
dbSNP: rs121913521
rs121913521
KIT
G 0.740 GeneticVariation CLINVAR The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment. 19737976

2009
dbSNP: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs. 17566086

2007
dbSNP: rs121913521
rs121913521
KIT
A 0.740 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913521
rs121913521
KIT
G 0.740 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST). 15894928

2005