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

## Overview

BCL6 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. 
Although common, particularly in DLBCL, the function of many of these mutations remains unclear but some have been shown to affect the regulation of BCL6 expression. The role of BCL6 missense mutations, seen over 9% of patients remains unclear. 


## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![BL](images/icons/BL_tier2.png)    |2 | Although recurrent, the relevance of mutations in BL is tenuous [@loveGeneticLandscapeMutations2012]|
|![DLBCL](images/icons/DLBCL_tier1.png) |1[@balSuperenhancerHypermutationAlters2022] | high-confidence DLBCL gene            [@morinFrequentMutationHistonemodifying2011; @morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018]|
|![FL](images/icons/FL_tier1.png)    |1 | high-confidence FL gene               |

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

[[include:DLBCL_BCL6.md]]
[[include:FL_BCL6.md]]
[[include:BL_BCL6.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_BCL6.md]]

## aSHM regions

|chr_name|hg19_start|hg19_end |region                                                                                              |regulatory_comment|
|:--------:|:----------:|:---------:|:----------------------------------------------------------------------------------------------------:|:------------------:|
|chr3    |187458526 |187464632|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187458526%2D187464632)         |NA                |
|chr3    |187615533 |187625659|[Intergenic-1](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187615533%2D187625659)|NA                |
|chr3    |187625659 |187638101|[Intergenic-2](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187625659%2D187638101)|NA                |
|chr3    |187657518 |187665996|[Intergenic-3](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187657518%2D187665996)|NA                |
|chr3    |187675741 |187690717|[Intergenic-4](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187675741%2D187690717)|NA                |
|chr3    |187690717 |187705000|[Intergenic-5](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A187690717%2D187705000)|NA                |



## BCL6 Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr3 | 187443373 | G>A | R585W |
| chr3 | 187443370 | G>A | P586S |
| chr3 | 187443369 | G>A | P586L |
| chr3 | 187443367 | C>T | A587T |
| chr3 | 187443366 | G>T | A587D |
| chr3 | 187443366 | G>C | A587G |
| chr3 | 187443345 | C>T | R594Q |
| chr3 | 187443342 | A>T | I595N |

[[include:browser_BCL6.md]]

## Expression
![](images/gene_expression/BCL6_by_pathology.svg)
<!-- ORIGIN: 21796119 -->
<!-- BL: loveGeneticLandscapeMutations2012 -->
<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->

## Representative Mutations

### BL

![](primary/Love_BCL6.svg)

**Rating** 
&starf; &starf; &starf; &starf; &star;

## All Mutations

### BL

[1090](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1090_reports.html)
[747](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/747_reports.html)


[[include:mermaid_BCL6.md]]

## References