Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE In contrast, SF3B1 and KIT have higher mutation rate in mucosal melanoma as compared to cutaneous melanoma. 31655118 2020
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease 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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Additionally, KIT alterations are enriched in the triple wild-type subtype of cutaneous melanoma. 30707374 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease 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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 PosttranslationalModification 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Although BRAF and KIT mutations are well-known melanocytic tumour-promoting mutations frequently found in cutaneous melanoma, they are rare or absent in CCS. 23796270 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE The discovery of BRAF and KIT mutations provided the first basis for a molecular classification of cutaneous melanoma on therapeutic grounds. 21670085 2011
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Low incidence of KIT gene mutations and no PDGFRA gene mutations in primary cutaneous melanoma: an immunohistochemical and molecular genetic study of Japanese cases. 20425130 2010
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT. 19158841 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 CausalMutation disease CGI