BIRC6

Overview

BIRC6, as a negative regulator of non-canonical NF-κB signaling, is implicated in lymphomagenesis. Mutations in the BIRC6 were identified in grey zone lymphoma (GZL), contributing to its distinct mutational profile compared to other related lymphomas.¹ These mutations are recurrent, albeit much less common, in DLBCL and FL.

Relevance tier by entity

Entity	Tier	Description
DLBCL	1	high-confidence DLBCL gene
FL	1	high-confidence FL gene
BL	2	relevance in BL not firmly established

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	7.27
DLBCL	Schmitz cohort	10.00
DLBCL	Reddy cohort	6.41
DLBCL	Chapuy cohort	4.70
FL	GAMBL genomes	3.70
BL	GAMBL genomes+capture	6.00
BL	Thomas cohort	3.80
BL	Panea cohort	14.90

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	0.862	1.339
DLBCL	No	No	1.795	5.011
FL	No	No	2.997	7.132

[!NOTE] First described in DLBCL in 2017 by Reddy A

## BIRC6 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr2	32740138	T>A	C3550*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

1. Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765-1776. doi: 10.1182/blood.2020007507. PMID: 32961552. ## BIRC6 Expression