Prostate cancer genetic background. The introduction of genetic testing in the determination of high-risk prostate cancer cases and selection of targeted chemotherapy in advanced prostate cancer patients.

Abstract

Introduction: Prostate cancer (PCa) is a major challenge in urology, with increasing incidence and mortality. Despite advances in diagnosis and treatment, certain patient groups remain poorly served. Genetic factors, particularly in hereditary prostate cancer (HPCa), are now recognized as significant contributors to disease progression. This review focuses on the role of genetic mutations in PCa, their impact on diagnosis, and management.

Material and methods: This review summarizes current literature on genetic mutations linked to PCa, including BRCA1, BRCA2, ATM, CHEK2, and others. These mutations are associated with more aggressive disease, earlier onset, and may influence treatment strategies. Guidelines from the Philadelphia Prostate Cancer Consensus Conference (PPCCC), the American National Comprehensive Cancer Network (NCCN), and the European Association of Urology (EAU) on genetic testing are also discussed.

Results: Genetic screening is increasingly recommended for high-risk individuals, such as those with a family history or aggressive PCa. Identifying mutations allows for early detection and tailored treatment, including more frequent screening and targeted therapies. Specific mutations, like those in BRCA genes, can benefit from chemotherapy in advanced stages. Genetic testing provides valuable information to guide patient management, improving early detection and patient outcomes.

Conclusions: Genetic testing plays a crucial role in PCa management, enabling personalized care for high-risk patients. As genetic research advances, incorporating genetic screening into clinical practice will enhance early diagnosis and treatment outcomes, ultimately improving patient survival and quality of life.