Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519729
rs1057519729
0.720 GeneticVariation BEFREE Using HRM and ASP-qPCR methods we identified one (0.7 %; 1/145) MEK1 substitution (Q56P) in CNS metastases of NSCLC. 26860843

2016

dbSNP: rs1057519729
rs1057519729
C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1057519729
rs1057519729
0.720 GeneticVariation BEFREE We also screened 85 NSCLC cell lines for MEK1 exon 2 mutations; one line (NCI-H1437) harbors a Q56P substitution, a known transformation-competent allele of MEK1 originally identified in rat fibroblasts, and is sensitive to treatment with AZD6244. 18632602

2008

dbSNP: rs1057519729
rs1057519729
C 0.720 CausalMutation CLINVAR We also screened 85 NSCLC cell lines for MEK1 exon 2 mutations; one line (NCI-H1437) harbors a Q56P substitution, a known transformation-competent allele of MEK1 originally identified in rat fibroblasts, and is sensitive to treatment with AZD6244. 18632602

2008

dbSNP: rs1057519729
rs1057519729
C 0.720 CausalMutation CLINVAR RAS signalling is abnormal in a c-raf1 MEK1 double mutant. 7651428

1995

dbSNP: rs727504317
rs727504317
0.710 GeneticVariation BEFREE Somatic mutations in MEK1 gene (substitutions K57N, Q56P, D67N) were described in <1 % of non-small cell lung cancer (NSCLC) and they were more commonly reported in adenocarcinoma patients with current or former smoking status. 26860843

2016

dbSNP: rs727504317
rs727504317
A 0.710 CausalMutation CLINVAR Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. 18632602

2008

dbSNP: rs727504317
rs727504317
A 0.710 CausalMutation CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073

2007

dbSNP: rs869025608
rs869025608
T 0.700 CausalMutation CLINVAR Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. 18632602

2008