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rdmorin edited this page May 27, 2024 · 24 revisions

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

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

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

Note

First described in BL in 2019 by Panea RI

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

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View all variants in GenomePaint hg19 or hg38

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BCR Expression

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