BCL11A

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 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.

Relevance tier by entity

Entity	Tier	Description
BL	2-a	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous
DLBCL	1-a	aSHM target and high-confidence DLBCL gene

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

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	4.455	0.000
DLBCL	Yes	Yes	5.279	69.578
FL	Yes	No	1.180	0.000

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

1. Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood. 2001 Dec 1;98(12):3413-20. doi: 10.1182/blood.v98.12.3413. PMID: 11719382. ## BCL11A Expression