rs121913227, BRAF

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Finally, the small sample size in V600K</span> tu</span>mors</span> is a major limitation of our study. 28858076 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE BRAF mutations were detectable in cfDNA in 76% and 81% of patients with BRAF V600E/V600K-positive tumors, respectively. 26446943 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Occult oncocytic papillary thyroid carcinoma with lymphoid stroma (Warthin-like tumor): report of a case with concomitant mutations of BRAF V600E and V600K. 26191315 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE The Idylla(™) System (Idylla(™)), i.e., the real-time-PCR-based Idylla(™) BRAF Mutation Test performed on the fully-automated Idylla(™) platform, enables detection of the most frequent BRAF V600 mutations (V600E/E2/D, V600K/R/M) in tumor material within approximately 90 min and with 1% detection limit. 26407762 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Considered separately, BRAF V600E mutant melanomas were strongly associated with MSS independently of thickness and nodal status (HR 3.89, 95% CI 1.67-9.09; P < 0.01) but BRAF V600K</span> mutant tumours were not (HR 1.19, 95% CI 0.36-3.92; P = 0.77). 25752325 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE Compared with V600E, the presence of a V600K mutation was significantly associated with older age (median, 60.0 years vs 44.7 years; P < .001), male sex (80% vs 59%; P = .001), head/neck primary tumor location (30% vs 15%; P = .0026), shorter interval to stage IV disease (0.98 years vs 2.8 years; P = .015), and a shorter overall survival from the time of diagnosis of stage IV disease (median, 2.44 years vs 1.25 years; hazards ratio, 1.68 [P = .014]). 23922205 2013