Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE In patients with BRAF-mutated melanoma specific inhibitors of BRAF<sup>V600E</sup> and MEK1/2 frequently induce initial tumor reduction, frequently followed by relapse. 28720543 2017
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Cobimetinib: inhibiting MEK1/2 in BRAF V600-mutant melanoma. 28112278 2016
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 23444215 2013
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Screening a larger cohort of individuals with melanoma revealed the presence of recurring somatic MAP2K1 and MAP2K2 mutations, which occurred at an overall frequency of 8%. 22197931 2011
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Combinatorial inhibition of MEK1/2 and CDK4/6 is currently undergoing clinical investigation in NRAS-mutant melanoma. 30819666 2019
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304 2013
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Taken together, our data indicate that preexisting MEK1(P124) mutations are associated with a reduced response to BRAF inhibitor therapy and identify a subset of patients with BRAF-mutant melanoma likely to benefit from combination therapies involving MEK or ERK inhibitors. 25370473 2015
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Thus, activating MEK1 exon 3 mutations identified herein and concurrent with V600E/KBRAF do not cause BRAFi resistance in melanoma. 22588879 2012
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Consistent with these observations, pharmacological inhibition of BRAF(V600E) or MEK1/2 in human melanoma cells (using PLX4720 and CI-1040 respectively) led to a striking elevation of BIM expression. 18715233 2008
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE Our data confirming that MEK2(C125S), but not the synonymous MEK1(C121S) protein, confers resistance to combination therapy highlight the functional differences between these kinases and the preponderance of MEK2 mutations in combination therapy-resistant melanomas. 25452114 2014
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144 2009
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE This MEK1(T55delins) (RT) mutation could be traced back to a fraction of the pre-treatment lesion and not only provided protection against vemurafenib but also promoted local invasion of transplanted melanomas. 26105199 2015
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE We thus report for the first time a low prevalence of MEK1 mutations in melanoma and colon cancer. 19411838 2009
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE We found that the acquired MEK1-C121S mutation in BRAF-V600E mutant melanoma conferred resistance to both vemurafenib and selumetinib but not E6201. 24448821 2014
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898 2013
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144 2009
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation disease BEFREE In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. 25654738 2015
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE The mitogen-activated extracellular signal-regulated kinase 1/2 (MEK1/2) inhibitor trametinib has shown promising therapeutic effects on melanoma, but its efficacy on colorectal cancer (CRC) is limited. 28756770 2017
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE While the role of the BRAF-MEK1/2-ERK1/2 pathway in melanoma is well established, the involvement of mitogen-activated protein kinases MEK5-ERK5 remains poorly explored. 29483645 2018
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Furthermore, recently identified ERK1/2-inducing mutations in MEK1 and MEK2 (MEK1/2) MAPK genes in melanoma confer resistance to emerging therapeutic MEK inhibitors, underscoring the challenges facing direct kinase inhibition in cancer. 23603816 2013
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease CTD_human Screening a larger cohort of individuals with melanoma revealed the presence of recurring somatic MAP2K1 and MAP2K2 mutations, which occurred at an overall frequency of 8%. 22197931 2011
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE FABP7 mRNA and protein level is down-regulated following treatment of melanoma cell lines with a PKC activator (PMA) or MEK1 inhibitor (PD98059). 18826602 2008
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE BRAF and MEK1/2 inhibitors are effective in melanoma but resistance inevitably develops. 31727888 2019
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker disease BEFREE Coupling MEK1/2 inhibitors with B-Raf inhibitors is more effective in treating such melanomas and dual therapy is now the standard of care. 30118796 2018