Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Importantly, although Mitf E318K was not sufficient to cooperate with BRaf V600E alone in promoting metastatic melanoma, it accelerated tumor formation on a BRaf V600E , Pten-deficient background (median survival, Mitf E318K/+  = 42 days, 95% CI = 31 to 46 vs Mitf WT  = 51 days, 95% CI = 50 to 55, P  < .001). 28376192

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We conducted a phase 3 randomized clinical trial comparing vemurafenib with dacarbazine in 675 patients with previously untreated, metastatic melanoma with the BRAF V600E mutation. 21639808

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Diffuse melanosis cutis in the setting of BRAF(V600E) metastatic melanoma. 25257244

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Control of BRAF(V600E) metastatic melanoma by BRAF inhibitor (BRAF-I) is limited by intrinsic and acquired resistance. 24732172

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Vemurafenib is an inhibitor of BRAF and is used to treat patients with metastatic melanoma who carry a V600E BRAF mutation. 23581649

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Methotrexate sensitizes drug-resistant metastatic melanoma cells to <i>BRAF</i> V600E inhibitors dabrafenib and encorafenib. 29568360

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Despite the remarkable clinical activities achieved by vemurafenib and dabrafenib in treating BRAF(V600E) metastatic melanoma, their clinical efficacy in BRAF(V600E) colorectal cancer is far less impressive. 26208524

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In contrast to patients with BRAF V600E-mutated metastatic melanoma, only 5% of patients with BRAF V600E-mutated mCRC responded to BRAF inhibitor monotherapy in an early-phase trial. 31219603

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation is required for use of the BRAF inhibitor, vemurafenib, in patients with metastatic melanoma. 23994118

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. 23174497

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cuSCCs) develop in 15-30% of patients with BRAF(V600E) metastatic melanoma treated with BRAF inhibitors (BRAFi). 24345644

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Intrinsic and acquired resistance of metastatic melanoma to (V600E/K)BRAF and/or MEK inhibitors, which is often caused by activation of the PI3K/AKT survival pathway, represents a major clinical challenge. 26790143

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We describe a 50-year-old Hispanic woman with BRAF V600E mutant metastatic melanoma who was treated with surgery, radiation therapy, interleukin-2, and was enrolled on a BRAFi (dabrafenib) trial. 25839886

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Vemurafenib, a BRAF inhibitor, is FDA-approved for the treatment of metastatic melanoma in patients who harbor the BRAF V600E mutation. 25942671

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF/MEK inhibition is a standard of care for patients with <i>BRAF</i> V600E/K-mutated metastatic melanoma. 31580757

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Intra- and inter-tumor heterogeneity of BRAF(V600E))mutations in primary and metastatic melanoma. 22235286

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Dabrafenib plus trametinib significantly prolonged progression-free survival (PFS) and overall survival (OS), improved objective response rates (ORRs) and preserved health-related quality of life (HR-QOL) to a greater extent than dabrafenib (in the double-blind COMBI-d study) and vemurafenib (in the open-label COMBI-v study) in two large, randomized, phase III studies in treatment-naïve patients with unresectable or metastatic melanoma with BRAF (V600E/K) mutation. 27246822

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The selective BRAF inhibitors vemurafenib and dabrafenib yield high response rates and improved overall survival in patients with BRAF V600E-mutant metastatic melanoma. 26857260

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Granulomatous nephritis and dermatitis in a patient with BRAF V600E mutant metastatic melanoma treated with dabrafenib and trametinib. 26512791

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here, we describe a patient with metastatic melanoma (T1N2cM1a) with a BRAF V600E mutation. 22293660

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This study investigated the sensitivity and specificity of immunohistochemical (IHC) analysis using an anti-BRAF antibody to detect the presence of the BRAF V600E mutation in patients with metastatic melanoma. 23026937

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Assessment of BRAF p.V600E mutational status has become necessary for treatment of patients with metastatic melanoma. 23651150

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Due to the BRAF (V600E) mutation in her tumor and her poor functional status, we offered her off-label treatment with vemurafenib, a BRAF inhibitor approved for use in metastatic melanoma. 24888229

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here, we describe a patient with BRAF-V600E-positive metastatic melanoma who was sequentially treated with BRAF/MEK inhibitors (dabrafenib/trametinib) and checkpoint inhibitor immunotherapy (nivolumab, followed by pembrolizumab). 31082388

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Although vemurafenib has been shown to improve the overall survival of patients with metastatic melanoma harboring the BRAF V600E mutation, its efficacy is often hampered by drug resistance acquired within a relatively short period through several distinct mechanisms. 30920401

2019