CXCR4

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

Overview

CXCR4 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. No notable hot spots have been described in this gene in the context of the cancers listed below. The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations.

Mutations in this gene were first described in DLBCL in 2012 [@khodabakhshiRecurrentTargetsAberrant2012] in FL in 2021 [@hubschmannMutationalMechanismsShaping2021] and in BL in 2019.[@paneaWholeGenomeLandscape2019]

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence MZL gene
	1	aSHM target and high-confidence DLBCL gene [@khodabakhshiRecurrentTargetsAberrant2012]
	2	aSHM target; Although recurrent, the relevance of mutations in FL is tenuous [@krysiakRecurrentSomaticMutations2017]
	2	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_CXCR4.md include:FL_CXCR4.md

Mutation pattern and selective pressure estimates

include:dnds_CXCR4.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr2	136874728	136875461	intron	weak_promoter

include:browser_CXCR4.md

Expression

Representative Mutations

BL

Rating ★ ★ ★ ★ ★

include:mermaid_CXCR4.md

References