Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation 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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. 23317446

2013

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Efficacy at the recommended phase 2 dose was studied in patients with BRAF-mutant tumours, including those with non-Val600Glu mutations, in three cohorts: metastatic melanoma, melanoma with untreated brain metastases, and non-melanoma solid tumours. 22608338

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks). 22735384

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 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: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
TT 0.800 GeneticVariation CLINVAR Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 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

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR In the dose-escalation cohort, among the 16 patients with melanoma whose tumors carried the V600E BRAF mutation and who were receiving 240 mg or more of PLX4032 twice daily, 10 had a partial response and 1 had a complete response. 20818844

2010

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Our findings offer evidence of the potent antitumor activity of RG7204 against melanomas harboring the mutant BRAF(V600E) gene. 20551065

2010

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003

dbSNP: rs121913377
rs121913377
CUI: C0025202
Disease: melanoma
melanoma
AT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002