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 While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Correlative preclinical studies demonstrated broad activity for E6201 across BRAF V600E mutant melanoma cell lines and effective BBB penetration in vivo. 30264293

2019

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE By using genetic material collected noninvasively and to further validate the PLA, somatic hotspot mutations in genes known to be drivers of early melanoma development (BRAF other than V600E, NRAS, and the TERT promoter) can also be identified. 30500343

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Importantly, ERK1/2 inhibition may have clinical utility in overcoming acquired resistance to RAF and MEK inhibitors, where RAS/MAPK pathway reactivation has occurred, such as relapsed BRAF V600E/K melanoma. 31710489

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The most prevalent BRAF mutation, V600E, occurs frequently in melanoma and other cancers. 31152574

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The data reveal a very close link between the two methods, supporting the use of the V600E as a primary screen for BRAF mutations in malignant melanoma. 30870099

2019

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Targeted therapies, based on identification of common oncogenic mutations such as BRAF V600E/K and monoclonal antibody immunotherapies, have transformed the treatment of melanoma. 30868471

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here we assessed the role of urokinase type plasminogen activator receptor (uPAR) as a potentially valuable biomarker in the acquisition of BRAF-I resistance in V600E mutant melanoma cells. 30611716

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Cost-effectiveness of dabrafenib and trametinib in combination as adjuvant treatment of BRAF V600E/K mutation-positive melanoma from a US healthcare payer perspective. 31223037

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE <b>:</b> The introduction of v-raf murine sarcoma viral oncogene homolog B (BRAF) inhibitors in melanoma patients with BRAF (V600E) mutations has demonstrated significant clinical benefits. 31416288

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here, we present a case of pulmonary melanocytic nevus, involving a BRAF gene mutation (V600E), and we discuss the potential significance of this condition as a precursor to pulmonary malignant melanoma. 31556191

2019

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Accordingly, we evaluated the phenotypical and molecular changes of isogeneic human V600E BRAF-mutant melanoma cell line pairs pre- and post-treatment with vemurafenib. 31514305

2019

dbSNP: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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: rs121913377
rs121913377
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