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.

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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
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article

Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort

Taha Reşid Özdemir, Seval Akay, Özge Özer Kaya, Mustafa Değirmenci et al.
Genes
Prostate Cancer Diagnosis and Treatment
article

Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort

Taha Reşid Özdemir, Seval Akay, Özge Özer Kaya, Mustafa Değirmenci, Olçun Ümit Ünal
article en

Abstract

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.

GenesVol. 17(1)
Izmir University (TR)
Good health and well-being
Openalex Percentile: Top 27%
Prostate Cancer Diagnosis and Treatment
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