Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		0.710 GeneticVariation BEFREE Two patients with BRAF L597S mutant melanoma clinically responded to dMAPKi. 29903896

2018
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. 23715574

2013
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. 22798288

2012
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Genetic predictors of MEK dependence in non-small cell lung cancer. 19010912

2008
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
dbSNP: rs121913368
rs121913368
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.710 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918

2002