Table of Contents

Overview

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
MCL 2 Role of BCOR mutations in MCL requires confirmation
MZL 2 Role of BCOR mutations in MZL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 6 0.0347 [0.0064,0.0631]
MCL BC_MCL 103 3 0.0291 [0,0.0616]
MCL Barcelona 57 3 0.0526 [0,0.1106]

Mutation pattern and selective pressure estimates

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BCOR Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chrX 39921444 T>C N1459S

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

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

References

1.
Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860
2.
Nadeu F, Martín-García 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, Puiggrós M, Castellano G, Costa D, Aymerich M, Jares P, Espinet B, Muntañola A, Ribera‐Cortada I, Siebert R, Colomer D, Torrents D, Giné E, López-Guillermo A, Küppers R, Martín-Subero J, Puente X, Beà S, Campo E. Genomic and epigenomic insights into the origin, pathogenesis and clinical behavior of mantle cell lymphoma subtypes. Blood. 2020;

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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