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 Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Sixty five consecutive formalin-fixed paraffin-embedded (FFPE) melanoma samples were prospectively tested for BRAF mutations with the VE1 (anti-BRAF V600E) antibody and for both BRAF and NRAS mutations with the Idylla NRAS-BRAF-EGFR S492R Mutation Assay cartridges. 31415669

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Our data suggest indoor tanning may promote melanomas that arise in skin with low-chronic sun-induced damage through BRAF V600E-mediated melanomagenesis. 30923800

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Only one case of urethral melanoma showed a BRAF non-V600E mutation (D594G). 31567539

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The presence of a BRAF V600E mutation and activation of ERK, MEK, S6, and AKT were assessed with immunohistochemistry in 35 conjunctival nevi and 31 melanomas. 31247083

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Chronic sun-damaged (CSD) melanoma represents 10%-20% of cutaneous melanomas and is characterized by infrequent BRAF V600E mutations and high mutational load. 31811783

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The identification of the V600E activating mutation in the protein kinase BRAF in around 50% of melanoma patients has driven the development of highly potent small inhibitors (BRAFi) of the mutated protein. 31401373

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients with BRAF V600E-mutated melanoma respond to FDA-approved BRAF inhibitors. 29271794

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Of these inhibitors, encorafenib and binimetinib are the newest combination, which received approval by the Food and Drug Administration (FDA) for the treatment of BRAF V600E/K-mutated melanoma in June 2018. 31050693

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The present study aims to assess the prevalence and prognostic significance of BRAF V600E mutation and apprehend its association with clinicopathologic features in stage I to III Turkish melanoma patients. 31058533

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Specific mutations of RAF kinases, such as the prevalent BRAF(V600E) mutation in melanoma, or defects in upstream signaling or feedback loops cause decoupled kinase activities which lead to tumorigenesis. 28466200

2019

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

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) have been applied to treat melanoma harboring V600E mutations. 30829029

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This study reviews the management of BRAF-V600E mutant melanoma with ependymal involvement. 30972290

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here we discuss the role of ERK signaling in cell fate, in driving melanoma, and in resistance mechanisms to current BRAF-V600E melanoma treatments. 31190430

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE B-raf V600E protein analysis revealed a subjacent layer of heterogeneity for mutation-positive metastatic melanomas. 31835364

2019

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 A PDOX nude mouse model of a BRAF V600E-mutant melanoma was established in the chest wall of nude mice and also tested with rMETase in combination with a first-line melanoma drug, temozolomide (TEM). 30725414

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE AHR activation induces the expression of resistance genes against the inhibitors of V600E mutated B-Raf proto-oncogene, serine/threonine kinase (BRAF) in melanoma and upregulation of programmed cell death protein 1 (PD-1) in tumor-infiltrating T cells surrounding melanoma. 31552251

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We previously reported that rMETase, administrated by intra-peritoneal injection (ip-rMETase), could inhibit tumor growth in a patient-derived orthotopic xenograft (PDOX) model of a BRAF-V600E mutant melanoma. 29187018

2018

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 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 We present a case of a woman with BRAF V600E-mutated malignant melanoma and rapidly progressing liver, bone, and lymph node metastases. 29215399

2018

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE PD-1 inhibitors such as nivolumab, or combination BRAF/MEK inhibitors for V600E or K mutant melanoma, which were previously available to only trial patients with completely resected stage III disease, are now approved for use in patients with positive SLNB alone. 30232648

2018