BCL7A
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. The rate of DLBCLs with biallelic loss of this locus remains unclear.
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timeline
title Publication timing
2015-02-12 : Reichel : PMBL
2017-01-26 : Krysiak : FL
2018-10-01 : Arthur : DLBCL
2019-03-21 : Grande : BL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
2 | relevance in PMBL/cHL/GZL not firmly established[@reichelFlowSortingExome2015a] |
 |
1-a | aSHM target and high-confidence DLBCL gene [@arthurGenomewideDiscoverySomatic2018] |
 |
1-a | aSHM target and high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@grandeGenomewideDiscoverySomatic2019] |
| 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 |
| 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 |
| 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
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