BCL6 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @loveGeneticLandscapeMutations2012, @balSuperenhancerHypermutationAlters2022, @morinFrequentMutationHistonemodifying2011, @morinMutationalStructuralAnalysis2013, @reddyGeneticFunctionalDrivers2017, @schmitzGeneticsPathogenesisDiffuse2018
Overview
BCL6 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. 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 remains unclear.
Experimental Evidence
Driver mutations affecting this gene in BL/FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@masclePointMutationsBCL62003]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
BL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 187458526 | 187464632 | TSS | NA |
| chr3 | 187615533 | 187625659 | Intergenic-1 | NA |
| chr3 | 187625659 | 187638101 | Intergenic-2 | NA |
| chr3 | 187657518 | 187665996 | Intergenic-3 | NA |
| chr3 | 187675741 | 187690717 | Intergenic-4 | NA |
| chr3 | 187690717 | 187705000 | Intergenic-5 | 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:tables/browser_BCL6.md
Expression
Representative Mutations
BL
Rating ★ ★ ★ ★ ☆
All Mutations
BL
include:tables/mermaid_BCL6.md