Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The detection of the BRAF V600E mutation in melanoma samples is used to select patients who should respond to BRAF inhibitors. 25952101

2015

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The most prevalent BRAF mutation, V600E, occurs frequently in melanoma and other cancers. 31152574

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Dabrafenib has demonstrated comparable efficacy to vemurafenib in BRAF V600E mutant melanoma patients. 25014231

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitor (BRAFi) therapy for melanoma patients harboring the V600E mutation is initially highly effective, but almost all patients relapse within a few months. 27748762

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The BRAF(T1799A) mutation was found in 112 (45%) of the primary melanomas. 17159915

2007

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Mutational activation of BRAF is the most prevalent genetic alteration in human melanoma, with ≥50% of tumours expressing the BRAF(V600E) oncoprotein. 23302800

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous. 18985043

2008

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Most melanoma cases have activating mutations in BRAF (V600E) and the selective inhibitors of BRAF(V600E) have been successfully used in patients. 27464806

2016

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The treatment of malignant melanoma with inhibitors targeting the BRAF V600E mutation has demonstrated dramatic clinical and radiographic response with improved progression-free and overall survival in the majority of patients receiving treatment. 24048637

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib and dabrafenib are B-Raf<sup>V600E</sup> inhibitors that were approved for the treatment of melanomas bearing the V600E mutation. 30118796

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE B-RAF mutations, predominantly the specific V600E mutation and additional alterations in exons 11 and 15, were frequently detected in malignant melanomas, papillary thyroid tumors, and colorectal cancers with microsatellite instability (MSI). 16413100

2006

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The primary melanoma was known to have a BRAF (V600E) mutation, and the patient was treated with whole brain radiotherapy and BRAF inhibitors. 26961773

2016

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 24670642

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In support of the hypothesis that AXIN1 is a mediator rather than a marker of apoptosis, siRNA directed against AXIN1 rendered resistant melanoma cell lines susceptible to apoptosis in response to treatment with a BRAF(V600E) inhibitor. 22234612

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE PLX4032/vemurafenib is a first-in-class small-molecule BRAF(V600E) inhibitor with clinical activity in patients with BRAF mutant melanoma. 22241959

2011

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib and dabrafenib block MEK-ERK1/2 signaling and cause tumor regression in the majority of advanced-stage BRAF(V600E) melanoma patients; however, acquired resistance and paradoxical signaling have driven efforts for more potent and selective RAF inhibitors. 24422853

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Furthermore, we demonstrate chemical chaperones relieve the BRAF(V600E)-mediated chronic ER stress status, consequently reducing basal autophagic activity and increasing the sensitivity of melanoma cells to apoptosis. 25361077

2015

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Putative genomic characteristics of BRAF V600K versus V600E cutaneous melanoma. 28858076

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib is a B-Raf V600E inhibitor that exerts significant inhibitory effects in melanoma but not in colon cancer, and the mechanism of vemurafenib resistance remains unclear. 30872078

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A 49-year-old man initially diagnosed in 1995 with cutaneous melanoma presented to the authors' institution in 2009 with metastatic, BRAF V600E-mutant melanoma. 24616537

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE With the discovery of (V600E)BRAF in about 50% of cutaneous melanomas, there was an increased effort to find additional mutations. 23489578

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103

2014