Overview

BCR (Breakpoint Cluster Region Protein) is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots).

Relevance tier by entity

Cannot include /table1_BCR.md - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.97
DLBCL Schmitz cohort 6.38
DLBCL Reddy cohort 3.90
DLBCL Chapuy cohort 4.27

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.4063 1.2729 1.0000
FL 1.7002 2.9980 1.0000
DLBCL 0.0000 0.0000 0.9986

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr22 23522060 23528313 TSS NA

BCR Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr22 23523350 A>G K68R
chr22 23523351 G>T K68N
chr22 23523353 G>A S69N
chr22 23523353 G>C S69T
chr22 23523356 A>T Y70F
chr22 23523359 A>C D71A
chr22 23523374 G>A G76D

Cannot include /browser_BCR.md - does not exist yet

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-03-06 : Lohr : DLBCL

References

1.
Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879–3884. PMCID: PMC3309757

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.

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.

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.