Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519808
rs1057519808
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE In three of these patients, we identified additional mitogen-activated protein kinase (MAPK) pathway alterations in the resistant tumor that were not detected in the pretreatment tumor, including a novel activating mutation in MEK2 (MEK2(Q60P)). 24265154 2014
dbSNP: rs1057519808
rs1057519808
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0027651
Disease:
Neoplasms 		0.020 GeneticVariation BEFREE We also identified the same MEK2-Q60P mutation along with BRAF amplification in a xenograft tumor derived from a second melanoma patient resistant to the combination of dabrafenib and trametinib. 24055054 2013