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
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
| MCL | 1 | high-confidence MCL gene |
| 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 |
| 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
| 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
- 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.
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.