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 Quadruple wild-type (WT) gastrointestinal stromal tumor (GIST) is a genomic subgroup lacking KIT/PDGFRA/RAS pathway mutations, with an intact succinate dehydrogenase (SDH) complex. 28130400 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Indeed, from being defined as GIST without KIT or PDGFRA mutations, we are now faced with the opposite scenario, where KIT/PDGFRA WT GIST are "positively" defined according to their specific molecular alterations. 28535771 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 AlteredExpression group BEFREE Clinicopathological characteristics of KIT and protein kinase C-δ expression in adenoid cystic carcinoma: comparison with chromophobe renal cell carcinoma and gastrointestinal stromal tumour. 28561935 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 AlteredExpression group BEFREE Gastrointestinal stromal tumors (GISTs) are caused by the constitutive activation of KIT or platelet-derived growth factor receptor alpha (PDGFRA) mutations. 28487491 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Most gastrointestinal stromal tumors (GISTs) harbor mutually exclusive gain of function mutations in the receptor tyrosine kinase (RTK) KIT (70-80%) or in the related receptor PDGFRA (~10%). 28768491 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors. 27864688 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). 28314314 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Activating mutations in the genes encoding the tyrosine receptor kinases KIT and platelet-derived growth factor receptor occur in 85%-90% of patients with gastrointestinal stromal tumors (GIST). 28267385 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE To investigate the effect of KIT and PDGFRA mutations on recurrence-free survival (RFS) in patients with gastrointestinal stromal tumors (GISTs) treated with surgery and adjuvant imatinib. 28334365 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Gastrointestinal stromal tumors (GISTs) are caused by gain-of-function mutations in the Kit receptor tyrosine kinase. 28192400 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Multiple gastrointestinal stromal tumors (GISTs) caused by germline KIT gene mutations are an extremely rare autosomal dominant disorder. 27771813 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors distinguished by driver mutations in proto-oncogenes KIT or PDGFRA in 85-90% of cases. 28098915 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Molecular analysis was available for 29/46 patients with a second tumor: wild-type GISTs (n. 5), exon 11 (n. 16), exon 13 (n. 1), exon 9 (n. 1) KIT mutations, exon 14 PDGFR-α mutation (n. 2) and exon 18 PDGFR-α mutation (n. 4). 27661019 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. 28159677 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 CausalMutation group CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE The majority of gastrointestinal stromal tumors (GIST) are driven by an abnormal receptor tyrosine kinase (RTK) signaling, occurring mainly due to somatic mutations in KIT or platelet derived growth factor receptor alpha (PDGFRA). 29110548 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE After identification of activating mutations of the KIT gene in gastrointestinal stromal tumor (GIST)-the most common sarcomaof the gastrointestinal tract-a phase 2 study demonstrated efficacy of imatinib mesylate in patients with metastatic GIST harboring a KIT exon 11 mutation. 28196207 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE Immunohistochemically, the GISTs are CD117, DOG-1 positive, SDHA negative (if SDHA mutated), SDHA positive (if SDHA intact) and SDHB negative. 27317811 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours. 26631948 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 GeneticVariation group BEFREE Further work is required to identify tailored therapies for specific subgroups of GISTs wild-type for KIT and PDGFRA mutations and to identify predictive factors of resistance to currently approved systemic therapies. 27600498 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group CTD_human Therefore, we hypothesized that Hedgehog signaling may be altered in human GIST and controls KIT expression. 27793025 2016
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group BEFREE ATP-mimetic tyrosine kinase inhibitors provide clinical benefit even in heavily pretreated GIST suggesting that oncogenic dependency on KIT frequently persists. 26187774 2016
Entrez Id: 3815
Gene Symbol: KIT
KIT
1.000 Biomarker group CTD_human Treatment with GLI1/2 inhibitors, including arsenic trioxide, significantly increased GLI3 binding to the KIT promoter, decreased KIT expression, and reduced viability in imatinib-sensitive and imatinib-resistant GIST cells. 27793025 2016