BCL2
BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. These mutations are caused by the somatic hypermutation process.1 The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. 2 Although missense mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists.3
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1-a | high-confidence DLBCL gene, hypermutated |
| FL | 1-a | high-confidence FL gene, hypermutated |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 0.46 |
| BL | Thomas cohort | 0.00 |
| BL | Panea cohort | 1.00 |
| DLBCL | GAMBL genomes | 23.71 |
| DLBCL | Schmitz cohort | 10.60 |
| DLBCL | Reddy cohort | 12.90 |
| DLBCL | Chapuy cohort | 15.80 |
| FL | GAMBL genomes | 50.35 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 0 |
| DLBCL | Yes | Yes | 2.645 | 0 |
| FL | Yes | No | 1.197 | 0 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr18 | 60796984 | 60814103 | intron | strong_enhancer |
| chr18 | 60982728 | 60988342 | TSS | active_promoter |
Note
First described in FL in 2011 by Morin RD
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr18 | 60985854 | T>C | M16V |
| chr18 | 60985854 | T>A | M16L |
| chr18 | 60985853 | A>T | M16K |
| chr18 | 60985852 | C>T | M16I |
| chr18 | 60985849 | C>G | K17N |
| chr18 | 60985842 | G>A | H20Y |
| chr18 | 60985840 | A>C | H20Q |
| chr18 | 60985838 | T>G | Y21S |
| chr18 | 60985835 | T>C | K22R |
| chr18 | 60985834 | CT>TC | K22R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
- Schuetz JM, Johnson NA, Morin RD, Scott DW, Tan K, Ben-Nierah S, Boyle M, Slack GW, Marra MA, Connors JM, Brooks-Wilson AR, Gascoyne RD. BCL2 mutations in diffuse large B-cell lymphoma. Leukemia. 2012 Jun;26(6):1383-90. doi: 10.1038/leu.2011.378. Epub 2011 Dec 22. PMID: 22189900.
- Hilton L et al. Motive and Opportunity: MYC rearrangements in high-grade B-cell lymphoma with MYC and BCL2 rearrangements-an LLMPP study. Blood. 2024. Epub May 3.
- Singh K, Briggs JM. Functional Implications of the spectrum of BCL2 mutations in Lymphoma. Mutat Res Rev Mutat Res. 2016 Jul-Sep;769:1-18. doi: 10.1016/j.mrrev.2016.06.001. Epub 2016 Jun 16. PMID: 27543313.
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