MAP2K1
History
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in DLBCL not firmly established |
 |
1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 3.19 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.14 |
| FL | GAMBL genomes | 1.39 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 4.318 | 0 |
| DLBCL | No | No | 11.932 | 0 |
| FL | No | No | 5.696 | 0 |
[!NOTE] First described in FL in 2016 by Louissaint A Jr
## MAP2K1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr15 | 66727441 | T>C | F53L |
| chr15 | 66727454 | A>C | K57T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## MAP2K1
Expression 
## References
1. 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
2. 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
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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