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 CausalMutation disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE BRAF mutations have recently been detected with a high frequency (66%) in cutaneous melanoma. 14501284 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE No BRAF exon 11 mutations were observed among seven CMs and nine UMs that were wild-type for exon 15. 14522897 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE These data suggest that UV exposure, plays a role in the genesis of BRAF mutations in cutaneous melanoma, despite the absence of the characteristic C>T or CC>TT mutation signature associated with UV exposure, and suggests mechanisms other than pyrimidine dimer formation are important in UV-induced mutagenesis. 15060100 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE An activating mutation has been recently observed in cutaneous melanoma in a downstream component of RAS-BRAF. 15179189 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Significant differences in BRAF exon 15 mutation frequency were found: 14/16 (87.5%) in common acquired naevi (CANs), 9/12 (75%) in CMs, 0/26 in Spitz naevi and 3/25 (12%) in blue naevi (p < 0.01). 15252839 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE The purpose of this study was to determine whether the T1799A BRAF mutation found in cutaneous melanoma is also present in conjunctival melanoma. 15277467 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. 15578519 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Recently, a high incidence of activating mutations in the kinase domain of the BRAF gene has been reported in malignant melanoma of the skin. 15588860 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE In contrast to cutaneous melanoma, there is no evidence that BRAF mutations are involved in the activation of the mitogen-activated protein kinase (MAPK) pathway in uveal melanoma, although there is increasing evidence that this pathway is activated frequently in the latter tumours. 15928660 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Recent molecular studies have identified recurrent BRAF mutations in both cutaneous melanoma and thyroid malignancies. 16049985 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Previous studies have shown frequent mutations in the BRAF (V-raf murine sarcoma viral oncogene homolog B1) or NRAS (neuroblastoma RAS viral [V-ras] oncogene homolog) genes in cutaneous melanoma, but the relationship between these alterations and tumor cell proliferation has not been examined in human melanoma. 16098042 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Absence of BRAF gene mutation in non-melanoma skin tumors. 16687919 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Thus far, there is very limited data combining BRAF and NRAS mutation analysis to explore differences between cutaneous melanoma subtypes. 16899595 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Somatic B-RAF gene mutation has been identified in many malignancies and detected at a high frequency in cutaneous malignant melanoma. 17404088 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Mutation analysis of the EGFR-NRAS-BRAF pathway in melanomas from black Africans and other subgroups of cutaneous melanoma. 18227705 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Mutational activation of the BRAF oncogene is the most common genetic alteration in cutaneous melanoma. 19033861 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Frequencies of NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma. 19037234 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 AlteredExpression disease BEFREE The BRAF/NRAS mutation status and expression of COX-2 and iNOS were examined to compare their prognostic value for overall survival (OS) in stage III malignant cutaneous melanoma. 19039588 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Human cutaneous melanoma; a review of NRAS and BRAF mutation frequencies in relation to histogenetic subclass and body site. 19383313 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE A set of 250 probes representing 209 genes that were significantly (raw P< or =0.001) associated with BRAF mutation status was identified and 17 of these were previously shown to be implicated in cutaneous melanoma progression or pigmentation pathway-associated genes driven by the microphthalmia transcription factor (MITF). 19383316 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Recently, germline variants of the melanocortin-1 receptor (MC1R) have been shown to be associated with an increased risk for BRAF mutant but not BRAF wild-type cutaneous melanoma. 19493000 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population. 19571821 2010
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE We propose an assay based on the use of a locked nucleic acid probe and an allele specific primer to measure plasma-circulating BRAF(V600E) concentration in patients affected by cutaneous melanoma (n=55) and non-melanoma skin cancers (n=13) as well as 18 healthy subjects. 20576522 2010
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis. 21166657 2011