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 BRAF V600E mutations occur frequently in malignant melanoma, but are rare in most malignant glioma subtypes. 29039591 2017
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Conclusions Cobimetinib is generally well tolerated and durable responses were observed in BRAF(V600E) mutant melanoma patients. 27424159 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Compared with intravenous dacarbazine, vemurafenib significantly improved overall survival and progression-free survival in patients with unresectable, previously untreated, BRAF(V600E) mutation-positive, stage IIIC or IV melanoma. 23329082 2013
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Vemurafenib-resistant BRAF-V600E-mutated melanoma is regressed by MEK-targeting drug trametinib, but not cobimetinib in a patient-derived orthotopic xenograft (PDOX) mouse model. 27690220 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE B-RAF mutations, predominantly the specific V600E mutation and additional alterations in exons 11 and 15, were frequently detected in malignant melanomas, papillary thyroid tumors, and colorectal cancers with microsatellite instability (MSI). 16413100 2006
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. 15578519 2004
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors target the BRAF-V600E/K mutated kinase, the driver mutation found in 50% of cutaneous melanoma. 30429474 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 24670642 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Gossypol retained its efficacy in BRAF-V600E melanoma clones with acquired resistance to BRAF inhibitors through a mechanism independent of MEK-ERK inhibition. 24625733 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE B-RAF mutations were detected in cell lines OCM-1 and -3 (V600E) and in six primary uveal melanomas. 18172070 2008
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Patients diagnosed with BRAF V600E mutated cutaneous melanoma show response to treatment with the BRAF inhibitor Vemurafenib. 23159593 2013
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Clinical significance of BRAF V600E mutational status in capsular nevi of sentinel lymph nodes in patients with primary cutaneous melanoma. 27666765 2017
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Two patients with BRAF-V600E mutant melanoma who had documented progression during treatment with dabrafenib/GSK1120212 and dabrafenib, respectively, were rechallenged with dabrafenib and vemurafenib after a treatment-free interval of 8 and 4 months during which further progression was documented. 22584957 2012
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 Genetic characterization of a predominant V600E mutation in melanoma, thyroid cancer, and other tumors became a focus for developing specific inhibitors, such as vemurafenib or dabrafenib. 24495477 2015
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAF(V600E) mutation may be associated with an unfavorable prognosis among melanoma patients. 25048604 2014
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 We conclude that PRIMA-1(Met) through its ability to directly reactivate p53 regardless of the mechanism causing its deactivation, and thereby dampen PI3K signalling, sensitises (V600E/K)BRAF-positive melanoma to BRAF inhibitors. 26790143 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. 23174497 2012
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. 25034364 2014
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 This study evaluated the safety and tolerability, pharmacokinetics (PK) and preliminary efficacy of dabrafenib 150 mg b.i.d. plus trametinib 2 mg q.d. in Japanese patients with BRAF V600E/K mutant solid tumors (phase 1) and melanoma (phase 2). 29399853 2018
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 Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature. 25976339 2015
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE A total of 55 patients (49 of whom had melanoma) were enrolled in the dose-escalation phase, and 32 additional patients with metastatic melanoma who had BRAF with the V600E mutation were enrolled in the extension phase. 20818844 2010