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Das familiäre Mammakarzinom

Familial breast cancer

Zusammenfassung

Mammakarzinome sind überwiegend sporadischen Ursprungs, während 5–10% erblich bedingt sind. Von diesen sind etwa 50% mit Mutationen in den Brustkrebsgenen BRCA1 und BRCA2 assoziiert. BRCA-Mutationsträgerinnen tragen ein lebenslanges Erkrankungsrisiko von 60–80% für Brustkrebs und von 20–40% für Eierstockkrebs. Molekulargenetische Analysen ermöglichen die Identifikation der Frauen mit einem erhöhten Erkrankungsrisiko. Für diese wurde 1996 das deutschlandweite Verbundprojekt „Familiärer Brust- und Eierstockkrebs“ etabliert, das ein interdisziplinäres Beratungs- und Betreuungskonzept entwickelt hat. Neben genetischer Beratung und Testung werden präventive und therapeutische Maßnahmen wie intensivierte Früherkennung, prophylaktische Operationen und neue, maßgeschneiderte Therapieverfahren angeboten.

Abstract

The majority of breast carcinomas occur sporadically, while about 5–10% are of familial origin. These are associated with mutations in the breast cancer genes BRCA1 and BRCA2. Mutation carriers have a life-time risk of 60–80% for breast cancer and 20–40% for ovarian cancer. Molecular genetic analysis allows identifying women with higher risk. Since 1996 the German consortium “Hereditary Breast and Ovarian Cancer” has provided an interdisciplinary approach to genetic counseling and testing. It also offers preventive and therapeutic strategies such as intensified surveillance, prophylactic surgery, and new tailored therapeutic techniques.

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Rhiem, K., Schmutzler, R. Das familiäre Mammakarzinom. Gynäkologe 43, 79–86 (2010). https://doi.org/10.1007/s00129-009-2506-8

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Schlüsselwörter

  • Familiäres Mammakarzinom
  • BRCA-Gene
  • Mutationsträgerinnen
  • Prophylaktische Operationen
  • PARP-Inhibitoren

Keywords

  • Familial breast cancer
  • BRCA genes
  • Mutation carriers
  • Prophylactic surgery
  • PARP inhibitors