Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Notorious oncogenic BRAF V600E plays a significant role in the signal transduction of the MAPK pathway, which is involved in tumor growth, especially in melanoma. 30630714

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) have been applied to treat melanoma harboring V600E mutations. 30829029

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE To anticipate possible resistance to ERK inhibitors (ERKi), we used SCH772984 (SCH) as a model ERKi to characterize resistance mechanisms in two BRAF V600E melanoma cell lines. 30833419

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Our results demonstrated that the BRAF V600E mutation is a frequent event in Indian melanomas, and represents an important molecular target for novel therapeutic approaches. 30803557

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib is a B-Raf V600E inhibitor that exerts significant inhibitory effects in melanoma but not in colon cancer, and the mechanism of vemurafenib resistance remains unclear. 30872078

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients with rare <i>BRAF</i> mutations can respond to targeted therapy, however, efficacy seems to be lower compared with V600E mutated melanoma. 31580757

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The combination of a BRAF inhibitor dabrafenib and a MEK inhibitor trametinib (CombiDT) has improved outcomes compared with chemotherapy or BRAF inhibitor monotherapy in advanced BRAF V600E/K melanoma. 30661097

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here, we tested the BETi, PLX51107, for immune-based effects on tumor growth in BRAF V600E melanoma syngeneic models. 31063649

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This study thus defined SPRY4 as a potential mediator of synthetic suppression, which is likely to contribute to the observed exclusivity between BRAF(V600E) and NRAS(Q61R) mutations in melanoma. 30651601

2019

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Patients with BRAF V600E-mutated melanoma respond to FDA-approved BRAF inhibitors. 29271794

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We suggest that using primary melanoma tissues is just as safe as using metastatic tissue for detection of BRAF V600E, as BRAF intertumour heterogeneity is extremely rare. 29119584

2018

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE To test whether the BRAF inhibitors dabrafenib and vemurafenib together with ionizing radiation more effectively inhibit melanoma cells, primary human melanoma tumor cell lines expressing wild-type (WT) or mutant V600E BRAF were analyzed by cell survival, cell death, and cell-cycle testing. 29491057

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Melanoma cell line A375 with BRAF V600E point mutation exhibits higher FRET efficiency than liver cancer cell line HegG2 that was not reported having the mutation at this point. 29766713

2018