Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898

2015
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR 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
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR 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
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. 23248257

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. 22536370

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011