rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) are used to treat patients with melanoma harboring the V600E mutation. 30482853 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE CTC profiling was performed using 5 known melanoma mRNA biomarkers and BRAF V600E DNA mutation. 31672856 2019
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE B-raf V600E protein analysis revealed a subjacent layer of heterogeneity for mutation-positive metastatic melanomas. 31835364 2019
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: 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
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE This study reviews the management of BRAF-V600E mutant melanoma with ependymal involvement. 30972290 2019
melanoma
CUI: C0025202
Disease: 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