Table of Contents
Experimental Evidence
Driver mutations affecting this gene in FL have been experimentally demonstrated to cause a gain of function (GOF).schmidtMutationsMAP2K1Are2017?
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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FL
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Mutation pattern and selective pressure estimates
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MAP2K1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr15 | 66727441 | T>C | F53L |
| chr15 | 66727454 | A>C | K57T |
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Expression
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References
1.
Louissaint A, Schafernak KT, Geyer JT, Kovach
AE, Ghandi M, Gratzinger D, Roth CG, Paxton CN, Kim S, Namgyal C, Morin
R, Morgan EA, Neuberg DS, South ST, Harris MH, Hasserjian RP, Hochberg
EP, Garraway LA, Harris NL, Weinstock DM. Pediatric-type nodal
follicular lymphoma: A biologically distinct lymphoma with frequent
MAPK pathway mutations. Blood. 2016 Aug
25;128(8):1093–1100. PMCID: PMC5000844
2.
Shin
SY, Lee ST, Kim HJ, Ki CS, Jung CW, Kim JW, Kim SH. BRAF
V600E and MAP2K1 mutations in hairy cell leukemia
and splenic marginal zone lymphoma cases. Ann Lab Med. 2015
Mar;35(2):257–259. PMCID: PMC4330180


