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
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence MCL gene |
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 |
[!NOTE] BCOR mutations were first described in MCL in 2020 by Nadeu et al.2 and in 2021 by Kang et al, although the hot spot mutation reported in that study has not been reproduced.1
## 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
References
- Kang JH, Lee SH, Lee J, Choi M, Cho J, Kim SJ, Kim WS, Ko YH, Yoo HY. The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma. BMC Cancer. 2021 Jan 19;21(1):82. doi: 10.1186/s12885-021-07806-8. PMID: 33468080; PMCID: PMC7816311.
-
Nadeu F, Martin-Garcia D, Clot G, Díaz-Navarro A, Duran-Ferrer
M, Navarro A, Vilarrasa-Blasi R, Kulis M, Royo R, Gutiérrez-Abril J,
Valdés-Mas R, López C, Chapaprieta V, Puiggros M, Castellano G, Costa D,
Aymerich M, Jares P, Espinet B, Muntañola A, Ribera-Cortada I, Siebert
R, Colomer D, Torrents D, Gine E, López-Guillermo A, Küppers R,
Martin-Subero JI, Puente XS, Beà S, Campo E. Genomic and epigenomic
insights into the origin, pathogenesis, and clinical behavior of mantle
cell lymphoma subtypes. Blood. 2020 Sep 17;136(12):1419-1432. doi:
10.1182/blood.2020005289. PMID: 32584970; PMCID: PMC7498364. ##
BCOR Expression
