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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-07-27 : Jallades : MZL 2020-09-17 : Nadeu : MCL

Relevance tier by entity

Entity Tier Description
MZL 2 relevance in MZL not firmly established
DLBCL 1 high-confidence DLBCL gene
MCL 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

## 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

  1. 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.
  2. 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

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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