rs121913377, BRAF

N. diseases: 480
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 The MEK inhibitor trametinib was approved in 2013 for the treatment of unresectable or metastatic melanoma with a BRAF V600E mutation, the most common pathogenic mutation in melanoma. 28861837 2017
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 We completed a preliminary clinical trial applying cantilever array sensors to demonstrate identification of a BRAF(V600E) single-point mutation using total RNA obtained from biopsies of metastatic melanoma of diverse sources (surgical material either frozen or fixated with formalin and embedded in paraffin). 27490749 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Highly Concordant Results Between Immunohistochemistry and Molecular Testing of Mutated V600E BRAF in Primary and Metastatic Melanoma. 26695089 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE The selective BRAF inhibitors vemurafenib and dabrafenib yield high response rates and improved overall survival in patients with BRAF V600E-mutant metastatic melanoma. 26857260 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE BRAF(V600E) and NRAS(Q61L/Q61R) mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting. 27151331 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Dabrafenib plus trametinib significantly prolonged progression-free survival (PFS) and overall survival (OS), improved objective response rates (ORRs) and preserved health-related quality of life (HR-QOL) to a greater extent than dabrafenib (in the double-blind COMBI-d study) and vemurafenib (in the open-label COMBI-v study) in two large, randomized, phase III studies in treatment-naïve patients with unresectable or metastatic melanoma with BRAF (V600E/K) mutation. 27246822 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Trametinib, a selective inhibitor of mitogen-activated protein kinase kinase 1 (MEK1) and MEK2, significantly improves progression-free survival compared with chemotherapy in patients with BRAF V600E/K mutation-positive advanced or metastatic melanoma (MM). 27172483 2016
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE A vemurafenib-resistant human metastatic melanoma cell line positive for the BRAF V600E mutation was established. 27354627 2016
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 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 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 As the detection of the BRAF V600E mutation has a direct impact on treatment decision, an accurate screening for BRAF mutations in patients with advanced or metastatic melanoma is mandatory. 26020488 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Granulomatous nephritis and dermatitis in a patient with BRAF V600E mutant metastatic melanoma treated with dabrafenib and trametinib. 26512791 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Cutaneous toxicities associated with vemurafenib therapy in 107 patients with BRAF V600E mutation-positive metastatic melanoma, including recognition and management of rare presentations. 26109403 2015
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 In the COMBI-v trial, patients with previously untreated BRAF Val600Glu or Val600Lys mutant unresectable or metastatic melanoma who were treated with the combination of dabrafenib and trametinib had significantly longer overall and progression-free survival than those treated with vemurafenib alone. 26433819 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Vemurafenib, a BRAF inhibitor, is FDA-approved for the treatment of metastatic melanoma in patients who harbor the BRAF V600E mutation. 25942671 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Researchers retrospectively reviewed medical records of all patients at our institution with surgically incurable BRAF V600E mutated stage III or limited stage IV melanoma treated with induction vemurafenib, stopped electively during ongoing response, followed by consolidative radiation therapy with or without intervening surgery to debulk nodal metastases. 25746037 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE To present the impact of treatments on health-related quality of life (HRQoL) from the double-blind, randomised phase III COMBI-d study that investigated the combination of dabrafenib and trametinib versus dabrafenib monotherapy in patients with BRAF V600E/K-mutant metastatic melanoma. 25794603 2015
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 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 This study is aimed to examine challenges in the clinical detection of BRAF mutations in LN specimens with metastatic melanoma and to illustrate characteristic features of p.V600E and non-p.V600E mutations. 25456393 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Despite the remarkable clinical activities achieved by vemurafenib and dabrafenib in treating BRAF(V600E) metastatic melanoma, their clinical efficacy in BRAF(V600E) colorectal cancer is far less impressive. 26208524 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.100 GeneticVariation BEFREE Control of BRAF(V600E) metastatic melanoma by BRAF inhibitor (BRAF-I) is limited by intrinsic and acquired resistance. 24732172 2014