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 gene.1 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.
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Entity
Tier
Description
1-a
aSHM target and high-confidence DLBCL gene
Mutation incidence in large patient cohorts (GAMBL reanalysis)