Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913355
rs121913355
0.010 GeneticVariation BEFREE Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of therapy with BRAF inhibitors and a promising therapeutic approach may be with nab-paclitaxel. 26070258

2015

dbSNP: rs121913378
rs121913378
0.010 GeneticVariation BEFREE Response to MAPK pathway inhibitors in BRAF V600M-mutated metastatic melanoma. 25382067

2015

dbSNP: rs121913364
rs121913364
0.010 GeneticVariation BEFREE Trametinib has antitumour activity in patients with BRAF K601E and L597Q mutation-positive metastatic melanoma. 24933606

2014

dbSNP: rs121913366
rs121913366
0.010 GeneticVariation BEFREE Trametinib has antitumour activity in patients with BRAF K601E and L597Q mutation-positive metastatic melanoma. 24933606

2014

dbSNP: rs121913368
rs121913368
0.020 GeneticVariation BEFREE Tumors from patients with BRAF wild-type (WT), V600E (class I), and L597S (class II) metastatic melanoma were used to generate patient-derived xenografts (PDX). 29903896

2018

dbSNP: rs121913368
rs121913368
0.020 GeneticVariation BEFREE A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to treatment with the MEK inhibitor, TAK-733. 22798288

2012

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE Trametinib, a mitogen-activated extracellular signal-regulated kinase (MEK) inhibitor, has demonstrated great promise in treating metastatic melanoma associated with BRAF V600E and V600K mutations; however, it also is highly associated with cutaneous adverse events (AEs). 30489553

2018

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE BRAF/MEK inhibitor therapy improves outcomes in BRAF V600E- and V600K-mutated unresectable or metastatic melanoma. 28738051

2017

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE To review and summarize data on cobimetinib, which was approved by the US Food and Drug Administration (FDA) in November 2015 for use in combination with vemurafenib for unresectable or metastatic melanoma with a BRAFV600E or V600K mutation. 27701080

2017

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE In the COMBI-v trial, patients with previously untreated BRAF Val600Glu or Val600Lys mutant unresectable or metastatic melanoma who were treated with the combination of dabrafenib and trametinib had significantly longer overall and progression-free survival than those treated with vemurafenib alone. 26433819

2015

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutation-positive unresectable stage IIIC or stage IV melanoma. 26037941

2015

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE BRAF inhibitor activity in V600R metastatic melanoma. 23237741

2013

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE The aim of the present study was to investigate the frequency of the less common p.Val600Lys (V600K) mutation in metastatic melanoma from a high incidence region. 22614711

2012

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicentre, open-label, phase 2 trial. 23051966

2012

dbSNP: rs121913227
rs121913227
0.090 GeneticVariation BEFREE Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma. 22535154

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Currently, several targeted therapy regimens are approved as first-line treatment in V600E/K-mutant advanced and metastatic melanoma. 31305324

2020

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Currently, several targeted therapy regimens are approved as first-line treatment in V600E/K-mutant advanced and metastatic melanoma. 31305324

2020

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 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 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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A 75-year-old male developed a swelling in his left inguinal region and was diagnosed with a metastatic melanoma, which was found to harbor a BRAF V600E mutation. 31260118

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We describe peripheral blood smear, bone marrow morphology, histopathology, immunohistochemistry, including BRAF V600E, and molecular testing results of patients with metastatic melanoma to the bone marrow. 31112348

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In contrast to metastatic melanoma, BRAF inhibition alone or in combination with mitogen-activated protein kinase kinase (MEK) inhibitors has shown little utility in the treatment of BRAF V600E-mutant mCRC. 31840683

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Patients with stage IV metastatic melanoma and BRAF V600E mutations (n = 11, 31-68 years of age) were included. 29324592

2019