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
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 91 | 0.0836 | [0.0671,0.1] |
| DLBCL | GAMBL with Reddy | 2,088 | 175 | 0.0838 | [0.0719,0.0957] |
| DLBCL | BC | 231 | 25 | 0.1082 | [0.0682,0.1483] |
| DLBCL | Dana-Farber | 303 | 15 | 0.0495 | [0.0251,0.0739] |
| DLBCL | NCI | 470 | 50 | 0.1064 | [0.0785,0.1343] |
| DLBCL | Reddy | 999 | 84 | 0.0841 | [0.0669,0.1013] |
| DLBCL | DLBCL_ICGC | 85 | 1 | 0.0118 | [0,0.0347] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 83 | 0.1293 | [0.1033,0.1552] |
| FL | GAMBL with Crouch | 1,189 | 188 | 0.1581 | [0.1374,0.1789] |
| FL | BC | 379 | 57 | 0.1504 | [0.1144,0.1864] |
| FL | Kalmbach | 164 | 24 | 0.1463 | [0.0922,0.2004] |
| FL | Crouch | 547 | 105 | 0.1920 | [0.159,0.225] |
| FL | FL_ICGC | 99 | 2 | 0.0202 | [0,0.0479] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 17 | 0.0432 | [0.0207,0.0657] |
| BL | GAMBL without ICGC/Zhou | 320 | 21 | 0.0654 | [0.0383,0.0924] |
| BL | GAMBL with Panea | 410 | 23 | 0.0463 | [0.0261,0.0665] |
| BL | BLGSP | 219 | 15 | 0.0685 | [0.035,0.1019] |
| BL | Zhou/ICGC | 90 | 2 | 0.0222 | [0,0.0527] |
| BL | Panea | 101 | 6 | 0.0594 | [0.0133,0.1055] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 7.6653 | 32.1054 | 0 |
| FL | 8.7885 | 29.4846 | 0 |
| DLBCL | 2.1542 | 8.8483 | 0 |
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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