CXCR5
Overview
CXCR5 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. No notable hot spots have been described in this gene in the context of the cancers listed below. The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations. ## History
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in PMBL/cHL/GZL not firmly established | |
| 1-a | aSHM target and high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.91 |
| DLBCL | Schmitz cohort | 4.04 |
| DLBCL | Reddy cohort | 2.10 |
| DLBCL | Chapuy cohort | 1.71 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.351 | 0.000 |
| DLBCL | Yes | No | 1.785 | 0.000 |
| FL | Yes | No | 2.934 | 76.955 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 118754458 | 118756514 | TSS | NA |
[!NOTE] First described in DLBCL in 2018 by Schmitz R
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## CXCR5
Expression
## References 1.
Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland
S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y,
Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD,
Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J,
Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran
B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM.
Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J
Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183 2. Mottok A, Hung
SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H,
Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S,
Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C.
Integrative genomic analysis identifies key pathogenic mechanisms in
primary mediastinal large B-cell lymphoma. Blood. 2019 Sep
5;134(10):802–813. PMID: 31292115


