BCOR
BCOR acts as a co-repressor of BCL6, and mutations in BCOR could impair its binding affinity to BCL6 and other partners. Overall, protein-altering mutations in BCOR seem to be rare in DLBCL and MCL.1,2 One study reported a much higher prevalence of a hot spot mutation in BCOR but this result has not been reproduced.1 ## History
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly established(jalladesExomeSequencingIdentifies2017?) |
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence MCL gene (nadeuGenomicEpigenomicInsights2020b?) |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 7.66 |
| DLBCL | Reddy cohort | 2.50 |
| DLBCL | Chapuy cohort | 2.56 |
| MCL | GAMBL genomes | 3.79 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.341 | 0 |
| DLBCL | No | No | 2.471 | 0 |
| FL | No | No | 1.743 | 0 |
BCOR Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chrX | 39921444 | T>C | N1459S |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
BCOR Expression
References
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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