rs121913227, BRAF

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 BRAF inhibitor activity in V600R metastatic melanoma. 23237741 2013
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 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 Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma. 22535154 2012