Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE The relatively high KIT mutation rate in cutaneous melanoma in this central-European cohort justifies regular testing of this molecular target in this entity, not only in mucosal variants. 31848942

2020

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE In contrast, SF3B1 and KIT have higher mutation rate in mucosal melanoma as compared to cutaneous melanoma. 31655118

2020

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Our study aims to evaluate and review other studies that present the frequency of mutations of BRAF, NRAS, and KIT genes for different populations, and analyse correlation to their clinical-pathological characteristics and to the demographics of melanoma. 31274706

2020

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Finally, activating KIT mutations are rarely found to cause melanomas and may provide an actionable target for therapy. 31753111

2020

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE LMTK3 is essential for oncogenic KIT expression in KIT-mutant GIST and melanoma. 30242244

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE A UV mutation signature was associated with nevus and melanoma formation in POT1 variant carriers, and somatic mutations in driver genes such as BRAF, NRAS, and KIT were associated with lesion development in these patients. 30586141

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Following the successes of BRAF-targeted therapy in melanoma and KIT-targeted therapy in gastrointestinal stromal tumors, small-molecule tyrosine kinase inhibitors targeting KIT have been examined in KIT-mutated melanoma. 30707374

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Several SF3B1, NRAS, and KIT mutations not previously documented in sinonasal melanomas were detected in our series, suggesting a potential role for targeted therapies. 30273197

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Novel studies investigating the biologic characteristics of acral MM reported variable results: the overall mutational rates ranged respectively between 8.5% and 23% for KIT, between 3.6% and 33.3% for BRAF and between 3% and 47% for NRAS in ALMs. 29512974

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Both the melanomas harbor KIT mutation in approximately 15% of the cases; BRAF or NRAS mutation is found in approximately 10-15% of acral melanoma, but these mutations are less frequent in mucosal melanoma. 30675668

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE To our knowledge, no reports have been published on combinations of PD-1 blockades and c-KIT inhibitors in melanoma patients. 31689840

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE KIT expression was seen in 50% (7/14) of melanomas including single KIT mutant. 30760858

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE KIT mutations and copy number variations occur more frequently in the acral subtype of melanoma than in the nonacral subtype What does this study add? 31408190

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE We observed significant concordance between BRAFV600E and KIT immunoexpression in thin invasive melanomas. 31644622

2019

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Our study evidences a significant association between STAT3 inhibition and response to nilotinib, and provides a rationale for future research assessing STAT inhibitors in KIT-mutated melanoma. 28843487

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE <b>Purpose:</b> c-KIT overexpression is well recognized in cancers such as gastrointestinal stromal tumors (GIST), small cell lung cancer (SCLC), melanoma, non-small cell lung cancer (NSCLC), and acute myelogenous leukemia (AML). 29764854

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Compared to CM, which showed frequent mutations in known driver genes (BRAF 50.0%, NRAS 29.2%), MM displayed lower mutation frequencies (BRAF; 12.2%, p < 0.001, NRAS; 17.1%), and was significantly more enriched for triple wild-type (no mutations in BRAF, RAS, or NF1, 70.7% vs 25.0%, p < 0.001), IGF2R mutation (31.7% vs 6.3%, p = 0.002), and KIT mutation (9.8% vs 0%, p = 0.042). 30373548

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Data on BRAF, NRAS and KIT mutations are scarce in patients with vulvo-vaginal melanomas and are associated with important therapeutic issues. 29178146

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE KIT mutations, which are critical in the genetic pathogenesis of melanomas, define a unique subtype of melanoma associated closely with older age, and acral, mucosal, or CSD sites, but not associated with any histological features or tumor stage. 29746316

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE The frequency of BRAF mutation and KIT amplification significantly increased in the metastatic lesions compared to primary melanomas. 29361821

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker BEFREE Only a subset of patients with KIT-mutant melanoma derives clinical benefit from KIT inhibition, and the development of resistance is common. 29273148

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE KIT mutations were common in amelanotic acral melanoma. 29191620

2018

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Further investigation into the causes of acquired resistance to imatinib will be essential to improve the prognosis for patients with KIT-mutated melanoma. 28421416

2017

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression BEFREE KIT mutations and CD117 overexpression are markers of better progression-free survival in vulvar melanomas. 28734009

2017

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation BEFREE Mucosal melanoma differs from cutaneous melanoma not only in terms of poorer clinical outcome but also on the molecular level having e.g. less BRAF and more frequent KIT mutations than cutaneous melanomas. 28380455

2017