Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE Furthermore, MEK1(P124Q/S) mutations were shown to have independent kinase activity and introduction of these mutations into a BRAF-mutant melanoma cell line diminished inhibition of ERK phosphorylation by dabrafenib and enhanced clonogenic survival in the presence of dabrafenib compared with cells ectopically expressing wild-type MEK1. 25370473

2015
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 21107320

2010
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144

2009
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144

2009