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).

History

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

Relevance tier by entity

Entity Tier Description
DLBCL 1-a aSHM target and high-confidence DLBCL gene1

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 aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 2.733 2.641
DLBCL Yes No 1.249 3.642
FL Yes No 7.439 0.000

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BCR Expression

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.

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