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 Two patients with BRAF-V600E mutant melanoma who had documented progression during treatment with dabrafenib/GSK1120212 and dabrafenib, respectively, were rechallenged with dabrafenib and vemurafenib after a treatment-free interval of 8 and 4 months during which further progression was documented. 22584957

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in univariate and multivariate analyses. 24918823

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Dabrafenib plus trametinib versus dabrafenib monotherapy in patients with metastatic BRAF V600E/K-mutant melanoma: long-term survival and safety analysis of a phase 3 study. 28475671

2017

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Sodium arsenite- or statin-induced apoptosis was independent of BRAF status (wild type versus V600E) in melanoma lines. 21910007

2011

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE PLX4032 induces potent cell cycle arrest, inhibits proliferation, and initiates apoptosis exclusively in V600E-positive cells in a variety of in vitro experimental systems; follow-up xenograft studies demonstrate extreme selectivity and efficacy against melanoma tumors bearing the V600E oncoproduct. 20973932

2010

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Coexistence of BRAF V600E mutation and EZH2 gain is rather prevalent in melanoma. 29202777

2017

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The disease-free interval from diagnosis of primary melanoma to first distant metastasis was shorter for patients with V600K compared with V600E melanoma (17.4 vs. 39.2 months, P = 0.048), with no difference in survival thereafter. 22535154

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Thus, AURKB and WEE1 are targets and biomarkers of therapeutic efficacy, lying downstream of (V600E)B-RAF in melanomas. 23416158

2013

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We identified concurrent mutational inactivation of the PTEN and RB1 tumor suppressors as a mechanism for loss of BRAF/MEK dependence in melanomas harboring (V600E)BRAF mutations. 21725359

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib and dabrafenib are both orally bioavailable small molecule agents that block mitogen activated protein kinase signalling in patients with melanoma and BRAF(V600E) mutation. 26056325

2015

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The T1799A (V600E) mutation was detected by sequencing in melanomas from 5 of 22 patients as well as in the positive control, a cutaneous melanoma cell line. 15277467

2004

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The frequency of KRAS mutations in the melanocytic aggregate (five of 18, 28%) was second to BRAF V600E, while in melanoma</span>, the frequency was also second to BRAF V600E but equalled that of NRAS2 (1 of 18, 6%).No NRAS1 mutations were observed. 18945298

2009

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The oncogenic mutation of BRAF(V600E) has been found in approximately 8% of all human cancers, including more than 60% of melanoma and 10% of colorectal cancers. 26810733

2016

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Compared to patients with BRAF wild-type melanomas, those with BRAF(V600E) mutants were significantly younger, had more nevi but fewer actinic keratoses, were more likely to report a family history of melanoma, and had tumors that were more likely to harbor neval remnants. 26807515

2016

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases. 16179870

2005

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 Approximately 40-60% of melanomas from Caucasian populations carry activating mutations in the BRAF oncogene, with the most common being the p.Val600Glu (V600E) hotspot mutation in exon 15. 22614711

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 Fourty percent of all melanomas harbor a mutation in the signaling adaptor BRAF (V600E) that results in ERK hyperactivity as an oncogenic driver. 29983861

2018

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A Progressive Review of V600E-B-RAF-Dependent Melanoma and Drugs Inhibiting It. 27337967

2017

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 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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Selective inhibition of BRAF(V600E) by PLX4720 treatment of melanoma-bearing mice resulted in a strong decrease of tumor outgrowth. 22796458

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Activating mutations in the BRAF serine/threonine kinase are found in more than 70% of human melanomas, >90% of which are BRAF(V600E). 22361686

2012