BCL7A - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reichelFlowSortingExome2015,@balinas-gaviraFrequentMutationsAminoterminal2020,@morinFrequentMutationHistonemodifying2011,@zhangGeneticHeterogeneityDiffuse2013, @arthurGenomewideDiscoverySomatic2018,@krysiakRecurrentSomaticMutations2017,@grandeGenomewideDiscoverySomatic2019

Overview

BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.[@reichelFlowSortingExome2015] 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-gaviraFrequentMutationsAminoterminal2020] The rate of DLBCLs with biallelic loss of this locus remains unclear.

Experimental Evidence

Driver mutations affecting this gene in BL/DLBCL/FL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@balinas-gaviraFrequentMutationsAminoterminal2020]