Аннотация
Prostate cancer has a high association with disruption in DNA repair genes. In this case report, we describe a 66-year-old man diagnosed with advanced prostate cancer from Kazakhstan. Genetic testing identified a likely pathogenic BRCA2 c.7008-2A>T variant (rs81002823), which is known to disrupt nuclear DNA repair mechanisms and has a clinical association with prostate cancer with familial predisposition. We used computational tools, including SpliceAI, to predict the molecular impact of the variant on the gene expression and disease pathogenesis. We discuss the clinical significance of this variant and the role of targeted therapies such as Poly ADP-ribose polymerase (PARP) inhibitors for familial cancer patients with germline variants affecting BRCA1 and BRCA2. We want to demonstrate the role of genetic testing in prostate cancer management to inform personalized treatment strategies and improve family outcomes.