Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort
Seval Akay, Taha Resid Ozdemir, Ozge Ozer Kaya, Mustafa Degirmenci, Olcun Umit Unal · 2025
Read Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort by Seval Akay, Taha Resid Ozdemir, Ozge Ozer Kaya, Mustafa Degirmenci, Olcun Umit Unal (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12841403.txt.
Description
Seval Akay and four colleagues survey inherited DNA-repair gene variants in 122 Turkish men with prostate cancer, a population underrepresented in genomic databases. Panel testing classified variants as clearly harmful, uncertain, or absent. About thirty percent of patients carried at least one variant, with roughly ten percent clearly harmful.
The most affected genes were CHEK2, BRCA1, BRCA2, ATM, and APC. Variant carriage climbed with tumor grade, reaching three quarters in the highest grades, though the trend was not statistically significant. Truncating variants concentrated in high-grade tumors. The high share of uncertain variants reflects poor annotation for this population, the authors note. They support adding germline testing to risk assessment and family counseling.
Catalog record
| CREATOR | Seval Akay, Taha Resid Ozdemir, Ozge Ozer Kaya, Mustafa Degirmenci, Olcun Umit Unal |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |