BCL10 - morinlab/LLMPP GitHub Wiki
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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. BCL10 mutations are a feature of the BN2 genetic subgroup, mutated in nearly 40% of BN2 cases.[@wrightProbabilisticClassificationTool2020; @phelanBCL10MutantsArchitects2022]
Experimental Evidence
BCL10 missense mutations in the CARD domain and truncating mutations have distinct functions and different effects on BTK and MALT1 inhibitors. [@xiaBCL10MutationsDefine2022]
History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2013-08-15 : Morin : DLBCL
2016-09-08 : Spina : MZL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2023-07-26 : Russler-Germain : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene[@spinaGeneticsNodalMarginal2016b] |
 |
1-EE[@xiaBCL10MutationsDefine2022] | high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011;@morinMutationalStructuralAnalysis2013] |
 |
2 | relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b] |
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
