--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## 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*). ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|--------------------------------------| |![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene| |![MZL](images/icons/MZL_tier2.png)|2|relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016]| |![DLBCL](images/icons/DLBCL_tier1.png) |1 |high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013]| |![BL](images/icons/BL_tier2.png) |2 |relevance in BL not firmly established[@grandeGenomewideDiscoverySomatic2019]| ## 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 ![](images/gene_expression/CDKN2A_by_pathology.svg) [[include:mermaid_CDKN2A.md]] ## References