Gene Variant Detail

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Gene MAP2K1
Variant K57T
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 K57T lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57T results in increased Erk1/2 phosphorylation in culture (PMID: 30341394), and has been demonstrated to occur as a secondary drug resistance mutation (PMID: 26644315, PMID: 28819429, PMID: 30341394), and therefore, is predicted to result in a gain of Map2k1 protein function.
Associated Drug Resistance Y

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Transcript NM_002755.3
gDNA chr15:g.66435116A>C
cDNA c.170A>C
Protein p.K57T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.2 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38
NM_002755 chr15:g.66435116A>C c.170A>C p.K57T RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 K57T colorectal cancer resistant Panitumumab Preclinical Actionable In a preclinical study, a colorectal cancer cell line expressing MAP2K1 K57T was resistant to Vectibix (panitumumab) in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer sensitive Cetuximab + Trametinib Preclinical Actionable In a preclinical study, Erbitux (cetuximab) and Mekinist (trametinib) inhibited colorectal cancer cell lines expressing MAP2K1 K57T in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer predicted - resistant Cetuximab Case Reports/Case Series Actionable In a clinical case study, a patient with colorectal cancer developed liver metastases harboring MAP2K1 K57T that were insensitive to Erbitux (cetuximab) treatment and the mutation was confirmed to cause resistance in human colorectal cancer cell lines in culture (PMID: 26644315). 26644315
MAP2K1 K57T colorectal cancer sensitive Panitumumab + Trametinib Case Reports/Case Series Actionable In a clinical case study, a combination of Vectibix (panitumumab) and Mekinist (trametinib) caused tumor regression in a patient’s colorectal cancer metastases harboring MAP2K1 K57T after being identified pre-clinically as a combination likely to inhibit MAP2K1 K57T expressing colorectal cancer (PMID: 26644315). 26644315
BRAF V600E MAP2K1 K57T refractory hairy cell leukemia predicted - sensitive Cobimetinib + Vemurafenib Case Reports/Case Series Actionable In a clinical case study, a single patient with hairy cell leukemia who relapsed after initial response to Zelboraf (vemurafenib) was found to have acquired multiple clones with Mek/Erk activating mutations, of which the MAP2K1 K57T clone became dominant, and demonstrated a sustained response greater than 12 months to combined Zelboraf (vemurafenib) and Cotellic (cobimetinib) treatment (PMID: 30341394). 30341394
BRAF V600E MAP2K1 K57T hairy cell leukemia predicted - resistant Vemurafenib Case Reports/Case Series Actionable In a clinical case study, a single patient with hairy cell leukemia harboring BRAF V600E, who relapsed after a 38 week remission in response to Zelboraf (vemurafenib) treatment, was found to have acquired multiple clones with Mek/Erk activating mutations, of which the MAP2K1 K57T clone became dominant (PMID: 30341394). 30341394
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 K57T gain of function - predicted
BRAF V600E MAP2K1 K57T