---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---

## Overview

BCR (Breakpoint Cluster Region Protein) is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) 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](images/icons/DLBCL_tier1.png) |1 | aSHM target and high-confidence DLBCL gene            [@lohrDiscoveryPrioritizationSomatic2012]|

## 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

[[include:dnds_BCR.md]]

## aSHM regions

|chr_name|hg19_start|hg19_end|region                                                                                    |regulatory_comment|
|:--------:|:----------:|:--------:|:------------------------------------------------------------------------------------------:|:------------------:|
|chr22   |23522060  |23528313|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr22%3A23522060%2D23528313)|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 |

[[include:browser_BCR.md]]

## Expression
![](images/gene_expression/BCR_by_pathology.svg)
<!-- ORIGIN: Unknown -->

[[include:mermaid_BCR.md]]

## References