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<p>Prostate cancer (PCa) is the solid tumor of adulthood with probably the highest proportion of hereditary burden. In addition to age and environmental factors, genetic predisposition plays a&#xa0;central role in the pathogenesis and progression of disease in a&#xa0;third of cases. In recent years, advances in molecular genetic research have contributed significantly to identification of genetic risk variants. These include rare, highly penetrant pathogenic germline variants in DNA repair genes—in particular <i>BRCA2,</i> but also <i>BRCA1, ATM</i>, or <i>CHEK2</i>—which are associated with an increased risk of developing aggressive disease forms. On the other hand, genome-wide association studies (GWAS) have identified numerous common single variants (single-nucleotide polymorphisms, SNPs), which together, as polygenic risk scores (PRS), substantially influence the individual risk of disease development. The clinical relevance of these findings is multifaceted: taking genetic risk factors into account can improve overall clinical management—from early identification of at-risk individuals to differentiated risk stratification as a&#xa0;component of preventive measures (e.g., risk-adapted screening) and selection of targeted therapeutic approaches in advanced disease. This article provides an up-to-date overview of the potential of genomics in the context of prostate cancer and shows how genetic information can increasingly be integrated into clinical decision-making.</p>

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Familiäres (hereditäres) Prostatakarzinom – notwendiges Grundlagenwissen

  • 期刊论文

  • 发表日期：

    2025年7月28日

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  • Kerstin Rhiem,
  • Rita Schmutzler

摘要

Prostate cancer (PCa) is the solid tumor of adulthood with probably the highest proportion of hereditary burden. In addition to age and environmental factors, genetic predisposition plays a central role in the pathogenesis and progression of disease in a third of cases. In recent years, advances in molecular genetic research have contributed significantly to identification of genetic risk variants. These include rare, highly penetrant pathogenic germline variants in DNA repair genes—in particular BRCA2, but also BRCA1, ATM, or CHEK2—which are associated with an increased risk of developing aggressive disease forms. On the other hand, genome-wide association studies (GWAS) have identified numerous common single variants (single-nucleotide polymorphisms, SNPs), which together, as polygenic risk scores (PRS), substantially influence the individual risk of disease development. The clinical relevance of these findings is multifaceted: taking genetic risk factors into account can improve overall clinical management—from early identification of at-risk individuals to differentiated risk stratification as a component of preventive measures (e.g., risk-adapted screening) and selection of targeted therapeutic approaches in advanced disease. This article provides an up-to-date overview of the potential of genomics in the context of prostate cancer and shows how genetic information can increasingly be integrated into clinical decision-making.