Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902

2013

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Differential sensitivity of melanoma cell lines with BRAFV600E mutation to the specific Raf inhibitor PLX4032. 20406486

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Furthermore, PLX4032 increased the rate of proliferation of growth factor-dependent NRAS Q61L mutant primary melanoma cells, reduced cell adherence and increased mobility of cells from advanced lesions. 20149136

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CA 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs1057519695
rs1057519695
CUI: C0025202
Disease: melanoma
melanoma
CC 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989