CDKN2A

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @spinaGeneticsNodalMarginal2016, @grandeGenomewideDiscoverySomatic2019, @morinMutationalStructuralAnalysis2013,

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Overview

Although CDKN2A aberrations are common in DLBCL, this gene is predominantly affected by copy number alterations. One study found that deletions of the CDKN2A locus occur in about one-third of DLBCL patients.[@spinaGeneticsNodalMarginal2016] The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations. This gene has some recurrent sites of mutations (hotspots) with the most common mutation causing a truncation at codon 80 (R80*).

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@kannengiesserFunctionalStructuralGenetic2009]

Relevance tier by entity

include:table1_CDKN2A.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_CDKN2A.md

Mutation pattern and selective pressure estimates

Entity	Isoform	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	CDKN2A.p14arf	No	No	10.947	72.708
DLBCL	CDKN2A.p14arf	No	Yes	19.055	102.121
FL	CDKN2A.p14arf	No	No	0.000	117.964
BL	CDKN2A.p16INK4a	No	No	2.931	104.823
DLBCL	CDKN2A.p16INK4a	No	Yes	5.631	442.466
FL	CDKN2A.p16INK4a	No	No	0.000	159.196

CDKN2A Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr9	21971120	G>A	R80*

include:browser_CDKN2A.md

Expression

include:mermaid_CDKN2A.md

References