Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE To assess the rate of C-KIT positivity and its effect on survival of surgically treated sinonasal malignant melanoma patients with other histopathological biomarkers and clinical features. 28443572 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE The aims of this study were to determine the clinical and histological characteristics of melanoma in transplant recipients, the mutation profile (BRAF, NRAS and c-KIT genes), and the immune tolerance of the tumour microenvironment by immunohistochemical study of the expression of indoleamine 2,3-dioxygenase (IDO), PD1, PD-L1, CD8 and FoxP3. 27868139 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE The KIT mutation rate was highest in VVMs (22%) compared with 3% in cutaneous (P < .001) and 8.8% in mucosal (P = .05) melanoma subtypes. 28026870 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE KIT and NF1 were frequently comutated (32%) in the mucosal subgroup, with a significantly higher incidence than that in cutaneous melanoma (4%). 28296713 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE MNK1/2 inhibition limits oncogenicity and metastasis of KIT-mutant melanoma. 29035277 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Gain-of-function mutations in Kit receptor tyrosine kinase result in the development of a variety of cancers, such as mast cell tumours, gastrointestinal stromal tumours (GISTs), acute myeloid leukemia, and melanomas. 28403213 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. 27153441 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE For patients with NRAS-mutant melanoma, MEK inhibitor monotherapy and combined MEK and CDK4/6 inhibition are burgeoning strategies; for patients with KIT-mutant melanoma, tyrosine kinase inhibition is being leveraged, and for NF-1-mutant melanoma, mTOR and MEK inhibition is being actively evaluated. 28114255 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Many new treatment options in the last years, in particular targeted therapies (i.e. inhibitors of c-KIT, NRAS/MEK or BRAF) and immunotherapies (anti CTLA-4 and anti PD-1/PD-L1 antibodies), have changed the history of cutaneous melanoma. 28325255 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Oncogenic mutations in c-KIT, NRAS and BRAF components of the MAPK pathway have been identified in nearly 90% of cutaneous melanoma and this information has been used to develop small molecules that inhibit their activity. 29061773 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE TEAM originally included a comparator arm of dacarbazine (DTIC)-treated patients; the design was amended to a single-arm trial due to an observed low number of KIT-mutated melanomas. 28327988 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE To date, limited genetic analyses confirmed KIT mutations as a recurrent genetic event similar to other mucosal melanomas, occurring in up to 30% of anorectal melanomas. 27739435 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE KIT Suppresses BRAF<sup>V600E</sup>-Mutant Melanoma by Attenuating Oncogenic RAS/MAPK Signaling. 28947418 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE We conclude that c-KIT expression is a valuable predictor of prognosis and survival, especially in thick (>4 mm) melanomas. 27377140 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE BRAF, NRAS and C-KIT melanomas constitute distinct clinico-pathological entities. 29187493 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE These findings highlight the essential role of MITF in revealing the oncogenic activity of KIT in melanocytes and suggest that the cAMP pathway is a therapeutic target in KIT-mutated melanoma. 26973244 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Of the 105 MMs, 13 (10 Han and 3 Uyghur) were found to have mutations in KIT. 25917463 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Interestingly, among all metastatic melanoma eDMRs, the most correlated with patient survival were eDMRs that "switched" their methylation patterns back and forth between normal, primary, and metastases and target cancer drivers, e.g., KIT We further demonstrated that eDMR target genes were modulated in melanoma by the bone metastasis microenvironment, suggesting that eDMRs respond to microenvironmental cues in metastatic niches. 26907635 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE In addition, in vivo experiments harnessing a mouse xenograft model of early melanoma development demonstrated rapid lateral migration of KIT mutant cells compared to respective controls. 27322141 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Activating mutations in KIT play an important role in diagnosis and prognosis of multiple malignancies including mastocytosis, gastrointestinal stromal tumors, and a subset of melanoma and acute myeloid leukemia. 27258816 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE The frequent loss of KIT in cutaneous melanoma by promoter hypermethylation suggests that distinct KIT signaling pathways have opposing roles in the pathogenesis of melanoma subtypes. 25178104 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE BRAF and NRAS mutations are typically found in cutaneous melanomas, whereas KIT mutations are predominantly observed in mucosal and acral melanomas. 27188223 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE We conducted a phase II study of nilotinib 400 mg twice a day in two cohorts of patients with melanomas harboring KIT mutations or amplification: (A) those refractory or intolerant to a prior KIT inhibitor; and (B) those with brain metastases. 25695690 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Our results indicate that the mutations of BRAF and KIT exist in Japanese melanoma patients, however, the cell growth signaling may be regulated by not only these mutated genes, but by other unknown regulatory factors, which may affect the prognosis of melanoma. 25766129 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE BRAF, NRAS, and KIT are three well-known oncogenes involved in melanoma pathogenesis. 24468268 2015