Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE The Hidden Story of Heterogeneous B-raf V600E Mutation Quantitative Protein Expression in Metastatic Melanoma-Association with Clinical Outcome and Tumor Phenotypes. 31835364

2019

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Here, we report a case of a 45 year-old Caucasian lady with BRAF-V600E mutant metastatic melanoma to the brain who had whole brain radiotherapy followed by two Gamma knife radiosurgery treatments for localized disease progression. 30972290

2019

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Prospective evaluation of two screening methods for molecular testing of metastatic melanoma: Diagnostic performance of BRAF V600E immunohistochemistry and of a NRAS-BRAF fully automated real-time PCR-based assay. 31415669

2019

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 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: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 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: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
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
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib is a selective inhibitor of the BRAF V600E kinase, known to be highly effective in BRAF V600E-positive metastatic melanoma. 30036146

2018

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Targeted-NGS testing is feasible and cost-affordable and provides additional potentially actionable information for patients with BRAF V600E/K negative metastatic melanoma. 29926184

2018

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib is an inhibitor of the BRAF V600E mutation which is associated with tumor responses in patients with metastatic melanoma. 24815010

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib treatment for patients with locally advanced, unresectable stage IIIC or metastatic melanoma and activating exon 15 BRAF mutations other than V600E. 29076950

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Dabrafenib is an inhibitor of BRAF V600E used for treating metastatic melanoma but a majority of patients experience adverse effects. 28429064

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE The MEK inhibitor trametinib was approved in 2013 for the treatment of unresectable or metastatic melanoma with a BRAF V600E mutation, the most common pathogenic mutation in melanoma. 28861837

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Dabrafenib, a novel selective small-molecule inhibitor of BRAF, has been shown to increase overall survival in patients with unresectable metastatic melanoma harboring the BRAF V600E mutation. 27624900

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Small molecules targeting aberrant RAF activity, like vemurafenib (PLX4032), are highly effective against cancers harboring the V600E BRAF mutation and are now approved for clinical use against metastatic melanoma. 28188228

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE This double-blind, phase 3 study enrolled previously untreated patients with BRAF V600E/K-mutant unresectable stage IIIC or stage IV melanoma. 28475671

2017

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Although cAMP elevation did not alter the sensitivity of metastatic melanoma cells to BRAF(V600E) and MEK inhibitors, the EPAC-RAP1 axis appears to contribute to resistance to MAPK pathway inhibition. 28851815

2017