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<p>Prostate cancer is the most common cancer in men in Germany. Men with a&#xa0;family history or genetic predisposition are at a&#xa0;significantly increased risk—not only of developing prostate cancer but also of experiencing early-onset and aggressive disease. The risk is related to the number of affected relatives and increases with their diagnosis at an age below 60&#xa0;years. In addition to familial risk, a&#xa0;genetic risk may also be present. Rare pathogenic germline variants, particularly in DNA repair genes (e.g., <i>BRCA2, ATM</i>, and<i> CHEK2</i>), are associated with a&#xa0;higher likelihood of disease and a&#xa0;poorer prognosis. Moreover, common single-nucleotide polymorphisms (SNPs) also contribute to the prostate cancer risk. So-called polygenic risk scores, which aggregate these SNPs, can help to identify high-risk individuals at an early stage. Guidelines recommend genetic testing for men with specific risk constellations; however, studies have shown that many carriers of pathogenic variants are not captured by current testing criteria. Screening strategies and treatment options for men with an elevated risk are not yet fully defined. For example, the integration of multiparametric MRI is becoming increasingly important, particularly in men with pathogenic germline variants. The role of genetics spans from early detection to therapeutic decision-making, but it remains incompletely understood. In 2023, the first German prostate cancer prevention clinic for men with a&#xa0;familial and/or genetic predisposition, ProFam-Risk, was established at the University Hospital of Düsseldorf. The clinic aims to provide personalized diagnostics and care for this high-risk group through a&#xa0;combination of genetic analysis, imaging, psychometric testing, and interdisciplinary counseling.</p>

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Familiäres und genetisches Risiko beim Prostatakarzinom – aktueller Stand

  • 期刊论文

  • 发表日期：

    2025年6月10日

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  • Jale Lakes,
  • Matthias Boschheidgen,
  • Gerald Antoch,
  • Maike K. Klett,
  • André Karger,
  • Regina Roth,
  • Silke Redler,
  • Dagmar Wieczorek,
  • Günter Niegisch,
  • Peter Albers

摘要

Prostate cancer is the most common cancer in men in Germany. Men with a family history or genetic predisposition are at a significantly increased risk—not only of developing prostate cancer but also of experiencing early-onset and aggressive disease. The risk is related to the number of affected relatives and increases with their diagnosis at an age below 60 years. In addition to familial risk, a genetic risk may also be present. Rare pathogenic germline variants, particularly in DNA repair genes (e.g., BRCA2, ATM, and CHEK2), are associated with a higher likelihood of disease and a poorer prognosis. Moreover, common single-nucleotide polymorphisms (SNPs) also contribute to the prostate cancer risk. So-called polygenic risk scores, which aggregate these SNPs, can help to identify high-risk individuals at an early stage. Guidelines recommend genetic testing for men with specific risk constellations; however, studies have shown that many carriers of pathogenic variants are not captured by current testing criteria. Screening strategies and treatment options for men with an elevated risk are not yet fully defined. For example, the integration of multiparametric MRI is becoming increasingly important, particularly in men with pathogenic germline variants. The role of genetics spans from early detection to therapeutic decision-making, but it remains incompletely understood. In 2023, the first German prostate cancer prevention clinic for men with a familial and/or genetic predisposition, ProFam-Risk, was established at the University Hospital of Düsseldorf. The clinic aims to provide personalized diagnostics and care for this high-risk group through a combination of genetic analysis, imaging, psychometric testing, and interdisciplinary counseling.