Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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C | 0.720 | CausalMutation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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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 |
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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 |
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C | 0.720 | CausalMutation | CLINVAR | RAS signalling is abnormal in a c-raf1 MEK1 double mutant. | 7651428 | 1995 |
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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 |
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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 |
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A | 0.710 | CausalMutation | CLINVAR | Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. | 18060073 | 2007 |
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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 |