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Gene MAP2K1
Variant F53L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F53L lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53L results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation (PMID: 25164765, PMID: 29483135), increased Rsk phosphorylation (PMID: 25351745), transformation activity in culture (PMID: 25351745, PMID: 36442478), and increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F53L

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Transcript NM_002755.4
gDNA chr15:g.66435103T>C
cDNA c.157T>C
Protein p.F53L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
NM_002755 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435103T>C c.157T>C p.F53L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 F53L colorectal cancer sensitive Trametinib Preclinical Actionable In a preclinical study, a colorectal cancer cell line harboring MAP2K1 F53L demonstrated sensitivity to Mekinist (trametinib) in culture, resulting in decreased cell viability (PMID: 26582713). 26582713
MAP2K1 F53L colorectal cancer resistant Cetuximab Preclinical - Cell culture Actionable In a preclinical study, expression of MAP2K1 F53L conferred resistance to Erbitux (cetuximab) in colorectal cancer cells in culture (PMID: 28179366). 28179366
MAP2K1 F53L colorectal cancer sensitive Cetuximab + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Erbitux (cetuximab) and Mekinist (trametinib) decreased viability of colorectal cancer cells harboring MAP2K1 F53L in culture (PMID: 28179366). 28179366
MAP2K1 F53L Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited colony formation of transformed cells expressing MAP2K1 F53L in culture (PMID: 25351745). 25351745
MAP2K1 F53L Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed sensitivity to the Mek inhibitor, Selumetinib (AZD6244), as demonstrated by reversal of active Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L Advanced Solid Tumor sensitive PLX4720 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed sensitivity to the Braf inhibitor, PLX4720, as demonstrated by reversal of active Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L Advanced Solid Tumor resistant PD98059 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed resistance to the Mek inhibitor, PD98059, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed resistance to Stivarga (regorafenib; BAY 73-4506), as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L Advanced Solid Tumor resistant GDC0879 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed resistance to the Braf inhibitor, GDC-0879, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L Advanced Solid Tumor resistant AZD8330 Preclinical - Cell culture Actionable In a preclinical study, Map2k1 F53L displayed resistance to the Mek inhibitor, AZD8330, as demonstrated by constitutive activation of Map2k1 in transformed human kidney cells (PMID: 29753091). 29753091
MAP2K1 F53L histiocytic sarcoma predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) treatment resulted in resolution of symptoms within 3 days and a durable complete response for over 2 years in a patient with histiocytic sarcoma harboring MAP2K1 F53L (PMID: 29768143). 29768143
MAP2K1 F53L Advanced Solid Tumor sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 F53L in culture (PMID: 32641410). 32641410
MAP2K1 F53L Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 F53L in culture (PMID: 36442478). 36442478