Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516792
rs397516792
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: rs1057519731
rs1057519731
0.720 GeneticVariation 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

dbSNP: rs1057519731
rs1057519731
0.720 GeneticVariation 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

dbSNP: rs397516792
rs397516792
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: rs1057519856
rs1057519856
0.020 GeneticVariation 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

dbSNP: rs1057519856
rs1057519856
0.020 GeneticVariation 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