Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690

1998
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation BEFREE The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated. 16185297

2005
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 11505412

2001
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation. 22685257

2012
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation BEFREE Its superior selectivity would make it a good pharmacological tool for further dissection of KIT V559D mediated pathology in the GISTs. 29340041

2017
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 15824741

2005
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation BEFREE According to Western blot analysis, in imatinib-resistant GIST with both KIT V559D and BRAF V600E mutations, the inhibition of KIT V559D by imatinib caused a strong decrease of AKT phosphorylation, while ERK1/2 phosphorylation was not affected. 25182956

2015
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation BEFREE Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively). 21953054

2012
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704

2014
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation BEFREE Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs. 17259998

2007
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Imatinib was efficient in GISTs with p.K642E mutation with a disease control rate superior to 90% whatever the sporadic or inherited origin of the tumour. 23648119

2013
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Here we have investigated Eng expression in the Kit(K641E) mouse GIST model, in human GIST and in the Ba/F3 cell model. 21435173

2012
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
0.760 GeneticVariation BEFREE Here we characterized Ntsr1 mRNA and protein expression in the murine Kit(K641E) GIST model and in tissue microarrays of human GIST. 21364741

2011
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 Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E). 21757001

2011
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 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
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
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 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: 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
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