Overview
BCL7A protein interacts with components of the SWI/SNF chromatin remodeling complex, implicating it in chromatin remodeling processes essential for normal cellular function.1 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.2 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).2
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
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FL
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BL
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Mutation pattern and selective pressure estimates
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aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr12 | 122456912 | 122464036 | TSS | poised_promoter |
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Expression
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