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

BCL7A

Overview

BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.[@reichelFlowSortingExome2015a] Mutations in the BCL7A gene have been identified in diffuse large B-cell lymphoma (DLBCL) and other B-cell lymphomas, implicating this gene in the pathogenesis of these cancers. Importantly, BCL7A 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. Due to the presence of some loss-of-function mutations, BCL7A has been described as a tumour-suppressor gene in DLBCL.[@balinas-gaviraFrequentMutationsAminoterminal2020b] The rate of DLBCLs with biallelic loss of this locus remains unclear.

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timeline
    title Publication timing
      2011-07-27 : Morin : DLBCL
      2013-01-01 : Zhang : DLBCL
      2015-02-12 : Reichel : PMBL
      2017-01-26 : Krysiak : FL
      2018-10-01 : Arthur : DLBCL
      2019-03-21 : Grande : BL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence MZL gene
	2	relevance in PMBL/cHL/GZL not firmly established[@reichelFlowSortingExome2015a]
	1-EE[@balinas-gaviraFrequentMutationsAminoterminal2020b]	high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011; @zhangGeneticHeterogeneityDiffuse2013; @arthurGenomewideDiscoverySomatic2018]
	1	high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b]
	2	Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	5.31
BL	Thomas cohort	5.50
BL	Panea cohort	5.00
DLBCL	GAMBL genomes	7.65
DLBCL	Schmitz cohort	10.64
DLBCL	Reddy cohort	8.41
DLBCL	Chapuy cohort	6.41
FL	GAMBL genomes	13.86

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	Yes	9.127	46.248
DLBCL	Yes	Yes	22.635	0.000
FL	Yes	Yes	55.348	146.110

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr12	122456912	122464036	TSS	poised_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BCL7A Expression

References