rs121913227, BRAF

N. diseases: 31
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 V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices. 31305324 2020
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The history of melanoma prompted molecular analysis, and the lesion was found to harbor the BRAF V600K mutation, consistent with metastatic dedifferentiated melanoma. 30562218 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Management of V600E and V600K BRAF-Mutant Melanoma. 31741065 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Significant association with old age and primary tumors of head/neck/upper back suggest chronic solar damage as a contributing factor for melanomas harboring BRAF p.V600K or class-3 mutations. 31277584 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The second patient had stage III BRAF V600R mutant melanoma that was treated with pembrolizumab and dabrafenib, and also developed a regressed melanocytic nevus. 29152725 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Eligible participants were adult patients (aged ≥18 years) with histologically or cytologically confirmed surgically resectable clinical stage III or oligometastatic stage IV BRAF<sup>V600E</sup> or BRAF<sup>V600K</sup> (ie, Val600Glu or Val600Lys)-mutated melanoma. 29361468 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE PLA2G6 rs132985*T was associated with BRAF V600E (OR = 1.32, 95% CI = 1.05-1.67) and BRAF other (OR = 1.82, 95% CI = 1.11-2.98), but not BRAF V600K or NRAS+ melanoma. 29753029 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE If confirmed using larger numbers of V600K tumors, our results may prove useful for designing clinical management and targeted chemotherapeutical interventions for BRAF V600K-positive melanomas. 28858076 2017
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE These results support distinct etiologies for BRAF V600E, BRAF V600K, NRAS<sup>+</sup>, and wild-type melanomas. 28842324 2017
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The safety and efficacy of cobimetinib for the treatment of BRAF V600E or V600K melanoma. 27219630 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAFp.V600E, p.V600K, and p.V600R Mutations in Malignant Melanoma: Do They Also Differ in Immunohistochemical Assessment and Clinical Features? 26633701 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE In total, 88 patients (54%) had BRAFm melanoma (V600E/V600K). 26659191 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Practical performance assessment employed 33 independent tissue samples, composed of 27 leukemias (by pyrosequencing: 8 wild-type; 18 mutated; 1 noninformative) and 6 melanomas (V600E; V600K; wild-type, 2 each). 25611237 2016
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898 2015
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Melanomas had p.V600E (n = 30), p.V600K (n = 4), p.K601E (n = 1), p.600-601delinsE (n = 1), or no p.V600 mutations (n = 31). 23651150 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated progression of a previously unrecognized NRAS-mutant leukemia. 24589925 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1. 24917033 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in univariate and multivariate analyses. 24918823 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103 2014