rs121913227, BRAF

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 GeneticVariation BEFREE The disease-free interval from diagnosis of primary melanoma to first distant metastasis was shorter for patients with V600K compared with V600E melanoma (17.4 vs. 39.2 months, P = 0.048), with no difference in survival thereafter. 22535154 2012
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE Mutant allele-specific imbalance of the p.V600E mutation was predominantly present in specimens with distant organ metastases (79% versus 27% in LN metastases versus 13% in primary cutaneous tumors or adjacent soft tissue, P < .001). p.V600K was detected in 23% of men older than 60 years old, compared with 6% in women older than 60 years old and 2% in both men and women younger than 60 years old (P < .001). 25456393 2015
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE With regard to the B-raf protein sequence, the acidic amino acid transitions V599E and V599K were predicted in 15 (62%) and five (21%) of the 24 positive metastases, respectively. 16179870 2005
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases. 30222690 2019
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitative PCR was used to study the occurrence of small subsets of mutation-positive cells in primary melanomas and melanoma metastases. 23499336 2013
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 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 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 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
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889 2003
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.060 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases. 15935100 2005
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.020 GeneticVariation BEFREE The BRAF V600E (c.1799T>A or c.1799_1800delTGinsA) and BRAF V600K mutations were detected in 85% (n = 34/40) of naevi. 28714107 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.020 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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.020 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889 2003
leukemia
CUI: C0023418
Disease: leukemia
0.020 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
leukemia
CUI: C0023418
Disease: leukemia
0.020 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
Malignant neoplasm of colon and/or rectum
0.020 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
Unresectable Melanoma
CUI: C4725093
Disease: Unresectable Melanoma
0.020 GeneticVariation BEFREE The U.S. Food and Drug Administration approved the use of trametinib and dabrafenib in combination for patients with metastatic or unresectable melanoma with BRAF V600K or V600E mutations-the first combination therapy approved for the disease. 24596183 2014
Malignant neoplasm of colon and/or rectum
0.020 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
Unresectable Melanoma
CUI: C4725093
Disease: Unresectable Melanoma
0.020 GeneticVariation BEFREE Recently, cobimetinib was approved for the treatment of metastatic or unresectable melanoma with serine/threonine-protein kinase B-raf (BRAF) V600E or V600K mutations when used in combination with the BRAF inhibitor vemurafenib. 28112278 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.020 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