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 development of vemurafenib resistance limits the long-term efficacy of this drug for treatment of metastatic melanomas with the (V600E)BRAF mutation. 27297867

2016

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 data reveal a very close link between the two methods, supporting the use of the V600E as a primary screen for BRAF mutations in malignant melanoma. 30870099

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE No case of melanoma with regression phenomenon presented with BRAF(V600E) mutation (P<0.05). 24471189

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF(V600E) mutations are frequent in melanomas originating from intermittently sun-exposed skin and also in common acquired melanocytic nevi, suggesting that BRAF mutation is an early event in melanocytic neoplasia. 23690527

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) induce antitumor responses in nearly 60% of patients with advanced V600E/KBRAF melanomas. 22588879

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE However, the combination of ixazomib with IFN-α significantly enhanced ixazomib's ability to induce apoptotic cell death in BRAF V600E mutant and BRAF wild-type human melanoma tumor cells. 27783987

2016

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We investigated the hypothesis that this common somatic BRAF mutation (V599E) would contribute to melanoma predisposition in familial and polygenic malignant melanoma if occurring as a germ-line mutation. 12794760

2003

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Thus, when present, BRAF(V599E) appears to be essential for melanoma cell viability and transformation and, therefore, represents an attractive therapeutic target in the majority of melanomas that harbor the mutation. 14500344

2003

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Successful (neo)adjuvant BRAF-targeted therapy in a patient with locally advanced BRAF V600E mutant melanoma. 25643238

2015

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Thus, cationic nanoliposomes loaded with siRNA targeting (V600E)B-Raf and Akt3 provide an effective approach for targeted inhibition of early or invasive cutaneous melanomas. 18794153

2008

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We studied global gene expression in three melanoma cell lines with the most common and potent V600E mutation in the B-RAF gene-four cell lines with a common Q61R mutation in the N-RAS gene and three cell lines with no mutations using human HG-U133A 2.0 micro-arrays with 22 277 transcripts. 15760917

2005

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372

2003

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In order to better understand the mechanistic basis for this resistance, we conducted a RNAi-based screen to identify genes that mediated chemoresistance to the RAF kinase inhibitor RAF265 in a BRAF (V600E) mutant melanoma cell line that is resistant to this drug. 21527556

2011

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Expression of aberrantly spliced BRAF V600E isoforms (BRAF V600E ΔEx) mediates resistance in 13%-30% of melanoma patients progressing on RAF inhibitors. 30404005

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Additional studies of BRAF have demonstrated that the T1799A mutation is absent in uveal melanomas and Spitz nevi. 15811117

2005

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Melanoma cell lines with RETp, RET wild type (RETwt), BRAF V600E mutation (BRAFmt) or BRAF wild type (BRAFwt) were assessed for functional activity. 19561646

2009

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Our findings highlight the role of BRAF(V600E) in activating the stroma and suggest a mechanistic link between BRAF(V600E) and MMP-1 in mediating melanoma progression and in activating adjacent fibroblasts in the tumour microenvironment. 25117819

2014

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Discoveries of frequent mutations involving BRAF(V600E), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pathway, clinical efficacy of BRAF-targeted small molecules, and emerging mechanisms underlying resistance to targeted therapeutics represent just a sample of the findings that have created a striking inflection in the quest for clinically meaningful progress in the melanoma field. 22661227

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE (2018) report that chondroitin-4-sulfate, which is found in a common supplement meant to alleviate degenerative joint disorders, promotes the growth of BRAF V600E mutant melanoma. 29547718

2018

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 Overall, we found that PDTX provides 'real-time' results in an animal that phenocopies the biology and expected vemurafenib responses of the tumor in a patient with BRAF V600E melanoma. 23852164

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE <b>:</b> The introduction of v-raf murine sarcoma viral oncogene homolog B (BRAF) inhibitors in melanoma patients with BRAF (V600E) mutations has demonstrated significant clinical benefits. 31416288

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE To unravel BRAFi resistance mechanisms we have performed gene expression and mass spectrometry based proteome profiling of the sensitive parental A375 BRAF V600E-mutated human melanoma cell line and of daughter cell lines with induced BRAFi resistance. 29048432

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here, we report that guanosine monophosphate synthase (GMPS), an enzyme required for the de novo biosynthesis of GMP, has a major role in invasion and tumorigenicity of cells derived from either BRAF(V600E) or NRAS(Q61R) human metastatic melanomas. 25909885

2015