rs1057519729, MAP2K1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.720 CausalMutation CLINVAR RAS signalling is abnormal in a c-raf1 MEK1 double mutant. 7651428 1995
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
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
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE Notably, NCI-H1437 is the only lung cancer cell line included in the dataset with a known activating mutation in MAP2K1 (Q56P). 26582713 2016
CNS metastases
CUI: C0686377
Disease: CNS metastases
0.010 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Notably, NCI-H1437 is the only lung cancer cell line included in the dataset with a known activating mutation in MAP2K1 (Q56P). 26582713 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Notably, NCI-H1437 is the only lung cancer cell line included in the dataset with a known activating mutation in MAP2K1 (Q56P). 26582713 2016