Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature. 25976339

2015

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A total of 55 patients (49 of whom had melanoma) were enrolled in the dose-escalation phase, and 32 additional patients with metastatic melanoma who had BRAF with the V600E mutation were enrolled in the extension phase. 20818844

2010

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively. 25370471

2015

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Among 23 melanomas located at body sites with chronic UV exposure, only a single tumour harboured the B-raf V599E mutation (4%), which was a significantly lower frequency in comparison to melanomas from sun-protected body sites (26%; Fisher's exact test, p=0.038; odds ratio, 7.59). 16773193

2006

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case. 14522897

2003

dbSNP: rs121913377
rs121913377
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

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks). 22735384

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Additionally, activation of FGFR3 sufficiently reactivated Ras/MAPK signaling and conferred resistance to vemurafenib in the parental B-RAF V600E melanoma cells. 22730329

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We demonstrate the use of INDRA and natural language to model three biological processes of increasing scope: (i) p53 dynamics in response to DNA damage, (ii) adaptive drug resistance in BRAF-V600E-mutant melanomas, and (iii) the RAS signaling pathway. 29175850

2017

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Although the BRAF V600E base substitution is an approved target for the BRAF inhibitors in melanoma, BRAF gene fusions have not been investigated as anticancer drug targets. 26314551

2016

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In this study, no association between BRAF-V600E mutation status of melanoma tumors and DDC after treatment with ipilimumab was detected. 22382362

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The BRAF V600E mutation was detected in 54/77 (70.1%) melanoma subjects. 24535907

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Our findings offer evidence of the potent antitumor activity of RG7204 against melanomas harboring the mutant BRAF(V600E) gene. 20551065

2010

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients with previously untreated BRAF V600E mutation-positive melanoma in BREAK-3 showed a median overall survival (OS) of 18.2 months for dabrafenib versus 15.6 months for dacarbazine (hazard ratio [HR], 0.76; 95% confidence interval, 0.48-1.21). 26040620

2015

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In a recent publication in Nature, Viros et al. identify TP53/Trp53 as a UVR-target gene in melanoma and show that UVR-induced TP53/Trp53 mutations accelerate BRAF(V600E)-driven melanomagenesis. 25033756

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Combinatorial drug screening and molecular profiling reveal diverse mechanisms of intrinsic and adaptive resistance to BRAF inhibition in V600E BRAF mutant melanomas. 26673621

2016

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In this study, we used an automated immunohistochemistry (IHC) staining coupled with mouse monoclonal anti-BRAF V600E (VE1) primary antibody to screen the BRAF V600E </span>mutation in 779 tumor cases, including 611 colorectal carcinomas (CRC), 127 papillary thyroid carcinomas (PTC) and 41 malignant melanomas. 25784606

2015

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE By using genetic material collected noninvasively and to further validate the PLA, somatic hotspot mutations in genes known to be drivers of early melanoma development (BRAF other than V600E, NRAS, and the TERT promoter) can also be identified. 30500343

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Although targeting the V600E activating mutation in the BRAF gene, the most common genetic abnormality in melanoma, has shown clinical efficacy in melanoma patients, response is, invariably, short lived. 25063807

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Overall median survival time (MST), stratified for variables, including BRAF V600E mutation and eligibility for treatments with new immunotherapy drugs, was retrospectively assessed in 41 patients with pelvic melanoma loco regional metastases. 29120401

2017

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This hospital-based study finds high sensitivity and specificity for the BRAF VE1 immunostain in comparison to pyrosequencing in detection of BRAF V600E in melanomas. 24917033

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In our study, we showed that combining immunohistochemistry analysis targeting NRAS(Q61R) and BRAF(V600E) proteins with molecular analysis was a reliable theranostic tool to face challenging samples of melanoma. 26204954

2015