CDKN2C
History
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in BL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.54 |
| BL | Thomas cohort | 3.40 |
| BL | Panea cohort | 3.00 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 16.525 | 50.872 |
| DLBCL | No | No | 3.474 | 0.000 |
| FL | No | No | 0.000 | 0.000 |
[!NOTE] First described in BL in 2023 by Thomas N
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## CDKN2C
Expression
## References 1. Thomas N,
Dreval K, Gerhard DS, Hilton LK, Abramson JS, Ambinder RF, Barta S,
Bartlett NL, Bethony J, Bhatia K, Bowen J, Bryan AC, Cesarman E, Casper
C, Chadburn A, Cruz M, Dittmer DP, Dyer MA, Farinha P, Gastier-Foster
JM, Gerrie AS, Grande BM, Greiner T, Griner NB, Gross TG, Harris NL,
Irvin JD, Jaffe ES, Henry D, Huppi R, Leal FE, Lee MS, Martin JP, Martin
MR, Mbulaiteye SM, Mitsuyasu R, Morris V, Mullighan CG, Mungall AJ,
Mungall K, Mutyaba I, Nokta M, Namirembe C, Noy A, Ogwang MD, Omoding A,
Orem J, Ott G, Petrello H, Pittaluga S, Phelan JD, Ramos JC, Ratner L,
Reynolds SJ, Rubinstein PG, Sissolak G, Slack G, Soudi S, Swerdlow SH,
Traverse-Glehen A, Wilson WH, Wong J, Yarchoan R, ZenKlusen JC, Marra
MA, Staudt LM, Scott DW, Morin RD. Genetic subgroups inform on
pathobiology in adult and pediatric Burkitt lymphoma. Blood. 2023 Feb
23;141(8):904–916.


