BCL10
Overview
BCL10 (B-cell lymphoma/leukemia 10) is a gene involved in apoptosis signaling and immune response regulation. Mutations in BCL10 have been implicated in the pathogenesis of various lymphomas, particularly mucosa-associated lymphoid tissue (MALT) lymphomas. They have also been reproducibly observed in a smaller proportion of DLBCLs with the frequency in non-MALT lymphomas under some debate.1 ## History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2016-09-08 : Spina : MZL
2023-07-26 : Russler : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence MZL genespinaGeneticsNodalMarginal2016b? | |
| 1 | high-confidence DLBCL gene1 | |
| 2 | relevance in FL not firmly establishedrussler-germainMutationsAssociatedProgression2023b? | |
| 2 | relevance in BL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 7.66 |
| DLBCL | Reddy cohort | 3.10 |
| DLBCL | Chapuy cohort | 6.41 |
| FL | GAMBL genomes | 2.31 |
| BL | GAMBL genomes+capture | 0.23 |
| BL | Thomas cohort | 0.40 |
| BL | Panea cohort | NA |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.224 | 0.000 |
| DLBCL | No | Yes | 13.754 | 106.692 |
| FL | No | Yes | 0.000 | 223.832 |
BCL10 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 85736474 | C>T | R58Q |
| chr1 | 85733390 | G>A | Q208* |
| chr1 | 85733386 | A>C | L209* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
BCL10 Expression
References
1.
Morin RD, Mendez-Lago M, Mungall AJ, Goya R,
Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M,
Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme
MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus
D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ,
Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao
Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J,
Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra
MA. Frequent mutation of histone-modifying genes in
non-Hodgkin lymphoma. Nature. 2011 Jul
27;476(7360):298–303. PMCID: PMC3210554


