Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE The successful treatment of some tumors, such as gastrointestinal stromal tumors (GISTs), by anti-KIT inhibitors fosters the study of this receptor tyrosine kinase in other malignancies. 18708242 2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE We tested the activity of avapritinib, a potent and highly selective inhibitor of mutated KIT and PDGFRA, in three patient-derived xenograft (PDX) GIST models carrying different <i>KIT</i> mutations, with differential sensitivity to standard TKI.<b>Experimental Design:</b> NMRI <i>nu/nu</i> mice (<i>n</i> = 93) were transplanted with human GIST xenografts with <i>KIT</i> exon 11+17 (UZLX-GIST9 <i> 30274985 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Our results suggest that KIT/PDGFRA mutation is a very common early event in GIST development, that tumour size does not reliably predict the presence of mutation, and that one or more subsequent mutations are required for clinical manifestation. 27472829 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Immunohistochemical examination showed coexpression of CD117 (c-kit) and CD34 in all independent GISTs and CD117 positivity in mast cells from the skin lesions. 11505412 2001
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 AlteredExpression group LHGDN Fifty-two cases of primary GIST were distinguished from a group of gastrointestinal mesenchymal tumors using a panel of antibodies such as CD117 and CD34 by immunohistochemical SP method. 16830365 2006
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Our data suggest that DHPLC is a cost-effective, rapid, and sensitive test for screening for mutations of c-KIT and PDGFRA in GISTs. 20023271 2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Eight patients with abrupt transition from a classic CD117-positive spindle cell GIST to an anaplastic CD117-negative tumor were investigated for underlying molecular mechanisms of tumor progression. 23348204 2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE This homogeneity suggests that the molecular pathogenesis of a GIST results from expansion of a clone that has acquired an activating mutation in KIT without the extreme genetic instability found in the common epithelial cancers. 11751374 2001
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE The introduction of imatinib, an orally administered inhibitor of the KIT receptor tyrosine kinase, is prompting revision of the management algorithms that have traditionally guided the treatment of gastrointestinal stromal tumor (GIST). 16401709 2006
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Cure can be obtained only by complete surgical removal of the GIST; however, imatinib, an inhibitor of KIT and PDGFRA, is indicated for advanced, recurrent, and/or metastatic GISTs. 20047122 2009
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Activating mutations of KIT were found in 14 (50%) GISTs, the majority being within exon 11 (n=11; 39.2%), and the other comprised exon 9 AY 502-503 duplications (n=2; 7.2%) and exon 17 Lys --> Aln822 missense mutations (n=1; 3.6%). 15154005 2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) constitute a small KIT/PDGFRA-WT GIST subgroup featuring DNA methylation which, although pervasive, appears nevertheless not randomly distributed. 30616628 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE In particular, the responsiveness of GISTs to treatment with the kinase inhibitor imatinib varies substantially depending on the exonic location of the KIT or PDGFRA mutation. 15365079 2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group LHGDN The majority of GISTs carry mutations in the c-kit protooncogene clustering in exon 11. 12918066 2003
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 AlteredExpression group BEFREE Cas-L overexpression and SRC hyper-activation were also observed in the resistant cells at protein level and they were markedly decreased in KIT siRNA transfected GIST-T1 IR cells. 19417561 2009
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group LHGDN Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs). 15795882 2005
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Ripretinib shows efficacy in preclinical cancer models, and preliminary clinical data provide proof-of-concept that ripretinib inhibits a wide range of KIT mutants in patients with drug-resistant GISTs. 31085175 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Analysis of activating KIT mutations in gastrointestinal stromal tumors is currently being used in management of patient therapy. 17588356 2007
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Imatinib is now also approved in adult patients following resection of KIT-positive GIST. 21195552 2011
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 AlteredExpression group BEFREE Gain-of-function mutations of the c-kit gene and the expression of phosphorylated KIT are found in most gastrointestinal stromal tumors and mastocytosis. 15471556 2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Additionally, even if the KIT-mutated GISTs alone were considered, a significantly higher expression of PDGFRA could be observed in gastric than in intestinal tumors. 17673922 2007
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Around 90% of GISTs contain mutations in KIT or PDGFRA and the remaining 10% of GISTs are wild-type. 30003531 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE There is growing evidence of phenotype-genotype (KIT, platelet-derived growth factor receptor-alpha, succinate dehydrogenase or other driver gene mutation) and genotype-therapeutic (sensitivity to imatinib) correlations in GIST. 25414046 2015
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Mutation-activated signaling from the KIT and PDGFRA kinases has been successfully targeted in gastrointestinal stromal tumors (GISTs), with subtle differences between the mutations serving to refine prognosis and more precisely tailor therapy. 24093165 2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group CLINGEN We propose that GISTs caused by a germline mutation of the c-kit gene should be referred to as GIST-cutaneous hyperpigmentation disease. 11208730 2001