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Genetik des Prostatakarzinoms

Genetics of prostate cancer

Zusammenfassung

Das Prostatakarzinom ist der häufigste maligne Tumor des Mannes, und es weist ätiologisch den größten genetischen Einfluss auf. Dennoch konnten bislang keine Gene identifiziert werden, die einen größeren Teil familiärer Fälle erklären und entsprechende Diagnostik ermöglichen. Keimbahnmutationen in 3 aus Kopplungsanalysen hervorgegangenen Genen (ELAC2, RNASEL, MSR1) sind zu selten und in ihrer Penetranz fraglich. Assoziationen zu diversen Genen sind meist schwach und nur für BRCA2 bzw. familiären Brustkrebs klinisch von Bedeutung. Infolge der extremen Heterogenität muss sich die genetische Beratung auf Risikoschätzungen aus dem Stammbaum stützen, wobei bereits ein betroffener Verwandter 1. Grades zu einem relevanten Risiko führt.

Abstract

Prostate cancer is the most frequent malignancy in males and its etiology is strongly influenced by genetic factors. Nevertheless, no mutated genes which could be used for diagnosis have been identified in a major proportion of familial cases. Three genes with germline mutations have been identified after linkage analysis (ELAC2, RNASEL, MSR1), but these mutations are very rare and their penetrance is not well defined. The association of most genes with genetic variants is weak, and only BRCA2/familial breast cancer is of clinical relevance. As a consequence of the extreme genetic heterogeneity, diagnostic tools are not available and genetic counseling has to rely on risk estimates from pedigree data in which a single affected first degree relative indicates a relevant risk.

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Correspondence to C. Maier.

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Maier, C., Vogel, W. Genetik des Prostatakarzinoms. medgen 19, 210–215 (2007). https://doi.org/10.1007/s11825-007-0010-x

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Schlüsselwörter

  • Prostatakarzinom
  • Hereditäres Prostatakarzinom
  • ELAC2
  • RNASEL
  • MSR1

Keywords

  • Prostate cancer
  • Hereditary prostate cancer
  • ELAC2
  • RNASEL
  • MSR1