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 BRAF V600E mutations occur frequently in malignant melanoma, but are rare in most malignant glioma subtypes. 29039591

2017

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Conclusions Cobimetinib is generally well tolerated and durable responses were observed in BRAF(V600E) mutant melanoma patients. 27424159

2016

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Compared with intravenous dacarbazine, vemurafenib significantly improved overall survival and progression-free survival in patients with unresectable, previously untreated, BRAF(V600E) mutation-positive, stage IIIC or IV melanoma. 23329082

2013

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib-resistant BRAF-V600E-mutated melanoma is regressed by MEK-targeting drug trametinib, but not cobimetinib in a patient-derived orthotopic xenograft (PDOX) mouse model. 27690220

2016

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
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

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
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

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 24670642

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Gossypol retained its efficacy in BRAF-V600E melanoma clones with acquired resistance to BRAF inhibitors through a mechanism independent of MEK-ERK inhibition. 24625733

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE B-RAF mutations were detected in cell lines OCM-1 and -3 (V600E) and in six primary uveal melanomas. 18172070

2008

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients diagnosed with BRAF V600E mutated cutaneous melanoma show response to treatment with the BRAF inhibitor Vemurafenib. 23159593

2013

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
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

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 We established vemurafenib-resistant (VR) cells from three BRAF (V600E)-mutated melanoma lines (C32, HMY-1, and SK-MEL-28) and evaluated the mechanism of acquired resistance of VR cells by water-soluble tetrazolium salts assay, western blot, real-time quantitative PCR, and immunofluorescent microscopy. 30920401

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Genetic characterization of a predominant V600E mutation in melanoma, thyroid cancer, and other tumors became a focus for developing specific inhibitors, such as vemurafenib or dabrafenib. 24495477

2015

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF(V600E) mutation may be associated with an unfavorable prognosis among melanoma patients. 25048604

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We conclude that PRIMA-1(Met) through its ability to directly reactivate p53 regardless of the mechanism causing its deactivation, and thereby dampen PI3K signalling, sensitises (V600E/K)BRAF-positive melanoma to BRAF inhibitors. 26790143

2016

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. 23174497

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. 25034364

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) are used to treat patients with melanoma harboring the V600E mutation. 30482853

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This study evaluated the safety and tolerability, pharmacokinetics (PK) and preliminary efficacy of dabrafenib 150 mg b.i.d. plus trametinib 2 mg q.d. in Japanese patients with BRAF V600E/K mutant solid tumors (phase 1) and melanoma (phase 2). 29399853

2018

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE CTC profiling was performed using 5 known melanoma mRNA biomarkers and BRAF V600E DNA mutation. 31672856

2019