rs113488022, BRAF

N. diseases: 490
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 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 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 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 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 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 The most prevalent BRAF mutation, V600E, occurs frequently in melanoma and other cancers. 31152574 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
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 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
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 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
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 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
melanoma
CUI: C0025202
Disease: 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
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 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
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 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
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 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 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 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 <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 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