CDKN2A - morinlab/LLMPP GitHub Wiki
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.1 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*).
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timeline
title Publication timing
2013-08-15 : Morin : DLBCL
2016-09-08 : Spina : MZL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2019-03-21 : Grande : BL
2021-05-05 : Hubschmann : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
2 | relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b] |
 |
1 | high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013] |
 |
2 | relevance in BL not firmly established[@grandeGenomewideDiscoverySomatic2019] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.25 |
| DLBCL | Schmitz cohort | 4.89 |
| DLBCL | Reddy cohort | 1.00 |
| DLBCL | Chapuy cohort | 1.71 |
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 3.00 |
| BL | Panea cohort | 3.00 |
| 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 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr9 | 21971120 | G>A | R80* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
