rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Intra- and inter-tumor heterogeneity of BRAF(V600E))mutations in primary and metastatic melanoma. 22235286 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE BRAF kinase inhibitors have dramatically affected treatment of BRAF(V600E) (/) (K)-driven metastatic melanoma. 25948295 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib is an inhibitor of the BRAF V600E mutation which is associated with tumor responses in patients with metastatic melanoma. 24815010 2017
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Trametinib, as compared with chemotherapy, improved rates of progression-free and overall survival among patients who had metastatic melanoma with a BRAF V600E or V600K mutation. 22663011 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Assessment of BRAF p.V600E mutational status has become necessary for treatment of patients with metastatic melanoma. 23651150 2014
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib treatment for patients with locally advanced, unresectable stage IIIC or metastatic melanoma and activating exon 15 BRAF mutations other than V600E. 29076950 2017
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE This study investigated the sensitivity and specificity of immunohistochemical (IHC) analysis using an anti-BRAF antibody to detect the presence of the BRAF V600E mutation in patients with metastatic melanoma. 23026937 2013
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE We describe peripheral blood smear, bone marrow morphology, histopathology, immunohistochemistry, including BRAF V600E, and molecular testing results of patients with metastatic melanoma to the bone marrow. 31112348 2019
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The Hidden Story of Heterogeneous B-raf V600E Mutation Quantitative Protein Expression in Metastatic Melanoma-Association with Clinical Outcome and Tumor Phenotypes. 31835364 2019
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The development of targeted inhibitors, like vemurafenib, has greatly improved the clinical outcome of BRAF(V600E) metastatic melanoma. 26105199 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE In August 2011 vemurafenib (Zelboraf; Daiichi Sankyo/Roche), an inhibitor of BRAF kinase, was approved by the US Food and Drug Administration (FDA) for the treatment of patients with unresectable or metastatic melanoma with the BRAF(V600E) mutation. 22037033 2011
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Dabrafenib is an inhibitor of BRAF V600E used for treating metastatic melanoma but a majority of patients experience adverse effects. 28429064 2017
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation is required for use of the BRAF inhibitor, vemurafenib, in patients with metastatic melanoma. 23994118 2013
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE A phase I, randomized, open-label study of the multiple-dose pharmacokinetics of vemurafenib in patients with BRAF V600E mutation-positive metastatic melanoma. 24178368 2014
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Treatment of metastatic melanoma with PLX4032 in patients with tumors that carry the V600E BRAF mutation resulted in complete or partial tumor regression in the majority of patients. 20818844 2010
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE IHC-measured BRAF(V600E) protein expression displays complete intertumoral homogeneity, minimal intertumoral intensity heterogeneity, and no intratumoral heterogeneity in metastatic melanoma patients in various stages of disease progression. 24335665 2014
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE We describe a 50-year-old Hispanic woman with BRAF V600E mutant metastatic melanoma who was treated with surgery, radiation therapy, interleukin-2, and was enrolled on a BRAFi (dabrafenib) trial. 25839886 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The phase III study of dabrafenib in BRAF(V600E) metastatic melanoma reported rapid tumor regression in most patients and a 59% objective RECIST response rate. 24583796 2014
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The BRAF inhibitors vemurafenib and dabrafenib have shown efficacy as monotherapies in patients with previously untreated metastatic melanoma with BRAF V600E or V600K mutations. 25399551 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib is a new-targeted therapy approved for the treatment of patients with V600E BRAF-mutant metastatic melanoma. 23528218 2013
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Intrinsic and acquired resistance of metastatic melanoma to (V600E/K)BRAF and/or MEK inhibitors, which is often caused by activation of the PI3K/AKT survival pathway, represents a major clinical challenge. 26790143 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Trametinib, a mitogen-activated extracellular signal-regulated kinase (MEK) inhibitor, has demonstrated great promise in treating metastatic melanoma associated with BRAF V600E and V600K mutations; however, it also is highly associated with cutaneous adverse events (AEs). 30489553 2018
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The loss of the (V599E)BRAF genotype during progression from primary to metastatic melanoma in patients with (V599E)BRaf specific T-cell responses suggests an active immune selection of nonmutated melanoma clones by the tumor-bearing host. 15289355 2004
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE A UK feasibility and validation study of the VE1 monoclonal antibody immunohistochemistry stain for BRAF-V600E mutations in metastatic melanoma. 27336602 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE V600E) and the subsequent development of specific BRAF inhibitors have greatly improved the treatment of metastatic melanoma. 23413975 2013