HLA B

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @lohrDiscoveryPrioritizationSomatic2012, @wienandGenomicAnalysesFlowsorted2019,

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Overview

Mutations in the HLA-B gene have been associated with a loss of cell surface expression of HLA class I molecules, which are essential for presenting tumor antigens to cytotoxic T cells. This is a common mechanism of immune escape in DLBCL. Deletions of this gene are more commonly reported than HLA-B mutations. The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations. Different analytical strategies relating to the mapping of sequencing data and subtracting common germline variants can complicate the detection of mutations in this and other HLA genes. Likely owing to this, the rate of mutations is highly variable across studies and the true mutation rate has not been firmly established.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@fangazioGeneticMechanismsHLAI2021]

Relevance tier by entity

include:tables/table1_HLA-B.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_HLA-B.md

FL

include:tables/FL_HLA-B.md

Mutation pattern and selective pressure estimates

include:tables/dnds_HLA-B.md

HLA-B Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	31324659	C>T	G50D
chr6	31324659	C>A	G50V
chr6	31324642	G>C	Q56E
chr6	31324630	A>T	F60I
chr6	31324583	C>T	W75*
chr6	31324583	C>G	W75C
chr6	31324576	G>A	Q78*

include:tables/browser_HLA-B.md

Expression

include:tables/mermaid_HLA-B.md

References