Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort
Germline DDR alterations-most notably in BRCA2, CHEK2, and ATM-were present in a substantial subset of Turkish men with PCa and showed a non-significant trend toward clustering in higher-grade disease. The high prevalence of VUS reflects limited genomic annotation in under-represented populations and underscores the need for longitudinal reinterpretation. These data support the clinical value of incorporating germline DDR testing into risk assessment and familial counseling, while larger cohorts integrating somatic profiling are needed to refine genotype-phenotype associations.
Authors
- Taha Reşid Özdemir (ORCID: https://orcid.org/0000-0003-4870-6945)
- Seval Akay (ORCID: https://orcid.org/0000-0002-1235-6739)
- Özge Özer Kaya (ORCID: https://orcid.org/0000-0001-6731-2461)
- Mustafa Değirmenci (ORCID: https://orcid.org/0000-0001-6988-9205)
- Olçun Ümit Ünal (ORCID: https://orcid.org/0000-0001-7698-3574)
Institutions
- Izmir University (TR)
Publication Details
- Journal
- Genes
- Published
- 2025-12-26
- DOI
- https://doi.org/10.3390/genes17010023
- Primary Topic
- Prostate Cancer Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00