Overview

BCL11A (B-cell lymphoma/leukemia 11A) is a transcription factor involved in the regulation of gene expression, particularly in lymphoid cells. Mutations in BCL11A have been linked to various lymphoid malignancies, including B-cell lymphomas. Amplification of the 2p13 region, where BCL11A is located, has been observed in various B-cell non-Hodgkin lymphomas (B-NHL) and Hodgkin disease (HD). Although this suggests that BCL11A amplification contributes to the malignancy through increased expression, the gene is commonly co-amplified with the REL gene1. The functional role of somatic mutations of BCL11A in B-cell lymphomas remains unclear. This 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.

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.54
BL Thomas cohort 1.70
BL Panea cohort 5.90
DLBCL GAMBL genomes 4.02
DLBCL Schmitz cohort 4.47
DLBCL Reddy cohort 1.60
DLBCL Chapuy cohort 3.42

Mutation pattern and selective pressure estimates

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aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr2 60773789 60783486 TSS active_promoter

BCL11A Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 60780391 C>G K5N
chr2 60780391 C>A K5N
chr2 60780390 G>A Q6*
chr2 60780380 GG>AA P9F
chr2 60780371 A>T L12*
chr2 60780368 C>T S13N
chr2 60780368 C>G S13T

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Expression

References

1.
Kober-Hasslacher M, Schmidt-Supprian M. The Unsolved Puzzle of c-Rel in B Cell Lymphoma. Cancers [Internet]. 2019 Jul [cited 2024 Dec 17];11(7):941. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678315/ PMCID: PMC6678315

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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