Table of Contents

Overview

POU2AF1 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.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1

Relevance tier by entity

Cannot include /table1_POU2AF1.md - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 41 0.0376 [0.0263,0.049]
DLBCL GAMBL with Reddy 2,088 74 0.0354 [0.0275,0.0434]
DLBCL BC 231 10 0.0433 [0.017,0.0695]
DLBCL Dana-Farber 303 17 0.0561 [0.0302,0.082]
DLBCL NCI 470 11 0.0234 [0.0097,0.0371]
DLBCL Reddy 999 33 0.0330 [0.022,0.0441]
DLBCL DLBCL_ICGC 85 3 0.0353 [0,0.0745]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 78 0.1215 [0.0962,0.1468]
FL GAMBL with Crouch 1,189 164 0.1379 [0.1183,0.1575]
FL BC 379 50 0.1319 [0.0979,0.166]
FL Kalmbach 164 25 0.1524 [0.0974,0.2075]
FL Crouch 547 86 0.1572 [0.1267,0.1877]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1
FL 6.6251 299.0800 0
DLBCL 1.7549 19.8517 0

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 111248078 111250224 TSS active_promoter

POU2AF1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr11 111249894 C>T W3*
chr11 111249899 G>A L2F
chr11 111249900 C>T M1?
chr11 111275352 T>C R6G

Cannot include /browser_POU2AF1.md - does not exist yet

Expression

Cannot include /mermaid_POU2AF1.md - does not exist yet

References

1.
González-Rincón J, Méndez M, Gómez S, García JF, Martín P, Bellas C, Pedrosa L, Rodríguez-Pinilla SM, Camacho FI, Quero C, Pérez-Callejo D, Rueda A, Llanos M, Gómez-Codina J, Piris MA, Montes-Moreno S, Bárcena C, Rodríguez-Abreu D, Menárguez J, de la Cruz-Merino L, Monsalvo S, Parejo C, Royuela A, Kwee I, Cascione L, Arribas A, Bertoni F, Mollejo M, Provencio M, Sánchez-Beato M. Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma. PLoS One. 2019;14(2):e0212813. PMCID: PMC6388933
2.
Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
3.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.