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
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 2 | relevance in FL not firmly established |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 0.23 |
| BL | Thomas cohort | 0.40 |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 7.70 |
| DLBCL | Reddy cohort | 3.10 |
| DLBCL | Chapuy cohort | 6.40 |
| FL | GAMBL genomes | 2.31 |
Mutation pattern
| 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
References
- Luminari S, Intini D, Baldini L, Berti E, Bertoni F, Zucca E, Cro L, Maiolo AT, Cavalli F, Neri A. BCL10 gene mutations rarely occur in lymphoid malignancies. Leukemia. 2000 May;14(5):905-8. doi: 10.1038/sj.leu.2401747. PMID: 10803524.
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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