CD274
Overview
Mutations in the CD274 gene in B-cell lymphomas, such as DLBCL, are relatively rare.1 Although rare, mutations have the potential to impact PD-L1 expression and could be relevant in the context of immune checkpoint inhibitors.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.96 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 1.30 |
| DLBCL | Chapuy cohort | 2.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 5.538 | 0.000 |
| DLBCL | No | No | 2.633 | 49.045 |
| FL | No | No | 4.631 | 42.709 |
[!NOTE] First described in DLBCL in 2011 by Morin RD
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
References
- Huang RSP, Decker B, Murugesan K, Hiemenz M, Mata DA, Li G, Creeden J, Ramkissoon SH, Ross JS. Pan-cancer analysis of CD274 (PD-L1) mutations in 314,631 patient samples and subset correlation with PD-L1 protein expression. J Immunother Cancer. 2021 Jun;9(6):e002558. doi: 10.1136/jitc-2021-002558. PMID: 34130989; PMCID: PMC8207995.