rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256 2020
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE A total of 46 adult lymph node-positive primary skin melanoma patients (23 BRAF-mutant and 23 BRAF-wild) with available information on the mutational status of the oncogene BRAF V600E were included in the analysis. 30997532 2019
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Additionally, an analysis of the correlation network reconstructed using TCGA-SKCM emphasized KMO and KYNU with high variability among BRAF wild-type compared with V600E, which underscored their role in distinct CD4+ T-cell behavior in tumour immunity. 31434983 2019
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors target the BRAF-V600E/K mutated kinase, the driver mutation found in 50% of cutaneous melanoma. 30429474 2018
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Clinical significance of BRAF V600E mutational status in capsular nevi of sentinel lymph nodes in patients with primary cutaneous melanoma. 27666765 2017
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The significance of BRAF V600E mutation status discordance between primary cutaneous melanoma and brain metastases: The implications for BRAF inhibitor therapy. 29310328 2017
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Putative genomic characteristics of BRAF V600K versus V600E cutaneous melanoma. 28858076 2017
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The BRAF V600E mutation accounts for the majority of BRAF mutations found in cutaneous melanoma and is also commonly found in nevi. 25607474 2015
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE We investigated 132 cases of primary cutaneous melanoma in patients aged between 18 and 30 years with emphasis on clinical characteristics, pathologic features, and molecular evaluation of mutation in the BRAF gene (BRAF(V600E)). 24471189 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. 24858900 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The present study investigated the BRAF V600E mutation frequency and its clinical implications in a group of 77 primary cutaneous melanoma patients treated in a cancer reference center in Brazil. 24535907 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Tumor microenvironment greatly differs between visceral metastasis and primary cutaneous melanoma, and the mechanisms involved in the antimetastatic efficacy of BRAF(V600E) inhibitors remain to be determined. 25351955 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE We obtained blood and tissue samples from a patient diagnosed with a BRAF(V600E)-mutant cutaneous melanoma that was treated with vemurafenib and achieved a near-complete response. 23948972 2013
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Patients diagnosed with BRAF V600E mutated cutaneous melanoma show response to treatment with the BRAF inhibitor Vemurafenib. 23159593 2013
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE BRAF(V600E) is the most common mutation in cutaneous melanoma and has become the target of treatment for patients with metastatic melanoma. 23211290 2013
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The most common recurring mutation in cutaneous melanoma is the prooncogenic BRAF V600E mutation that drives melanoma cell proliferation. 23174497 2012
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The effect of NRAS mutations on the pathological features and clinical outcomes in patients with cutaneous melanoma was compared with that of tumors containing BRAF(V600E) mutations and tumors wild type for both (WT). 21615881 2011
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The classical V600E BRAF mutation was not found; instead a novel V600L was observed suggesting that the oncogenic event in OMM is different from that in skin melanoma. 21750866 2011
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation 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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases. 15935100 2005
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation 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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation 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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The most common mutation, occurring in 80% of cutaneous melanoma samples, is a T-to-A transition resulting in a single amino acid substitution (V599E). 15179189 2004
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.800 GeneticVariation BEFREE The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines. 12917419 2003