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 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 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 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 GeneticVariation BEFREE V600R mutation and double (V600E -V600M) mutation were identified in two melanomas.In one case, V600K mutation was found.Two screening failures were noted. 23463675 2013
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
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. 23584600 2013
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. 23237741 2013
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
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE In the COMBI-v trial, patients with previously untreated BRAF Val600Glu or Val600Lys mutant unresectable or metastatic melanoma who were treated with the combination of dabrafenib and trametinib had significantly longer overall and progression-free survival than those treated with vemurafenib alone. 26433819 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicentre, open-label, phase 2 trial. 23051966 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE Trametinib, a mitogen-activated extracellular signal-regulated kinase (MEK) inhibitor, has demonstrated great promise in treating metastatic melanoma associated with BRAF V600E and V600K mutations; however, it also is highly associated with cutaneous adverse events (AEs). 30489553 2018
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE To review and summarize data on cobimetinib, which was approved by the US Food and Drug Administration (FDA) in November 2015 for use in combination with vemurafenib for unresectable or metastatic melanoma with a BRAFV600E or V600K mutation. 27701080 2017
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE We enrolled previously untreated patients with BRAF Val600Glu or Val600Lys mutation-positive unresectable stage IIIC or stage IV melanoma. 26037941 2015
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE The aim of the present study was to investigate the frequency of the less common p.Val600Lys (V600K) mutation in metastatic melanoma from a high incidence region. 22614711 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE BRAF/MEK inhibitor therapy improves outcomes in BRAF V600E- and V600K-mutated unresectable or metastatic melanoma. 28738051 2017
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma. 22535154 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
0.090 GeneticVariation BEFREE BRAF inhibitor activity in V600R metastatic melanoma. 23237741 2013
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
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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 GeneticVariation BEFREE In melanoma, V600K mutations in comparison to other BRAF mutations were associated with more frequent brain (75% vs. 36.3%, p = 0.02) and lung metastases (91.6% vs. 47.7%, p = 0.007), and shorter time from diagnosis to metastasis and to death (19 vs. 53 months, p = 0.046 and 78 vs. 322 months, p = 0.024 respectively). 22039425 2011
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 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
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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.080 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