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 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308 2002
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889 2003
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
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
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157 2003
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Tumor-specific tandem mutations, encoding either V599K, V599R, or V599E, were found in 5 of 17 (29%) melanomas with BRAF exon 15 mutations. 15140228 2004
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Downstream of Ras, the serine/threonine kinase B-raf has been reported to be mutated, among other carcinomas, in a substantial subset of primary melanomas with a preponderance of mutations within the kinase domain including the activating V599E and V599K transitions. 15935100 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 GeneticVariation BEFREE As to the B-raf protein sequence, the acidic amino acid transitions V599E and V599K were predicted in 19/60 (32%) and 6/60 (10%) cases, respectively, but were not associated with enhanced risk for subsequent metastasis in patients' follow up. 15935100 2005
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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.020 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases. 15935100 2005
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases. 16179870 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 GeneticVariation BEFREE The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications. 16179870 2005
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 malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
0.020 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases. 16179870 2005
Invasive Cutaneous Melanoma
CUI: C1708565
Disease: Invasive Cutaneous Melanoma
0.010 GeneticVariation BEFREE Two additional mutations, V600K and VK600-1E, also were identified in cases of invasive melanoma. 17824790 2007
Uveal melanoma
CUI: C0220633
Disease: Uveal melanoma
0.010 GeneticVariation BEFREE The V600K mutation was detected in one primary uveal melanoma, for which the V600E assay turned out to be sensitive as well. 18172070 2008
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065 2010
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. 20630094 2010
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844 2010
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844 2010
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. 20925915 2010
melanoma
CUI: C0025202
Disease: melanoma
0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808 2011