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Präventive operative Optionen für Frauen mit einer familiären Brust- und Eierstockkrebsbelastung

Preventive surgery options for women with hereditary breast and ovarian cancer

Zusammenfassung

Für das familiäre Mamma- und Ovarialkarzinom ist seit der Entdeckung der beiden Hochrisikogene BRCA1 und BRCA2 in den 1990er-Jahren die genetische Testung und die damit einhergehende individuelle Risikobestimmung möglich. In den zurückliegenden 20 Jahren waren im Rahmen der Betreuung von BRCA-Mutationsträgerinnen und ihren Familien die Bestimmung der Inzidenz und des Phänotyps der Karzinome sowie der Nachweis der Effizienz von prophylaktischen Operationen, intensivierter Brustkrebsfrüherkennung und zielgerichteter Therapieverfahren möglich. Dies versetzt uns heute in die Lage, bei Ratsuchenden individuelle Risikokalkulationen durchzuführen und sie im Rahmen nicht direktiver Beratungsgespräche auf dem Weg zu einer informierten und präferenzsensiblen Entscheidung in Bezug auf die Inanspruchnahme risikoadaptierter Präventionsmaßnahmen zu begleiten. Aktuell und zukünftig gilt es die Herausforderungen z. B. im Zusammenhang mit der Zulassung des ersten PARP-Inhibitors sowie mit der Entdeckung neuer Risikogene zu bewältigten. Schwerpunkt dieses Artikels ist der Nachweis, dass v. a. Frauen mit Mutationen in den Hochrisikogenen BRCA1/2 von operativen Maßnahmen profitieren.

Abstract

The publication in 1994 and 1995 of articles on the two high-risk genes for hereditary breast and ovarian cancer, BRCA1 and BRCA2, allowed genetic testing in families with the determination of their specific risk. Over the last 20 years, protocols for genetic counselling have been developed, breast and ovarian cancer frequencies and clinical phenotypes have been determined, and the efficiency and rationale for risk adjusted preventive measures and specific clinical interventions have been examined. This enables us to inform patients within non directive counselling about their individual risk and to accompany them to a preference sensitive decision on risk adapted preventive and therapeutic measures. The most recent challenges include the approval of PARP inhibitors and the discovery of new risk genes. This manuscript focusses on the efficacy of risk-reducing mastectomy and salpingo-oophorectomy mainly in women carrying mutations in the BRCA1 and BRCA2 genes.

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Correspondence to Kerstin Rhiem.

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Interessenkonflikt

PD Dr. Rhiem weist auf folgende Beziehungen hin: Sie erhielt Honorare für die Teilnahme an Advisory Board Treffen sowie Vortragshonorare der Firma Astra Zeneca.

Alle im vorliegenden Manuskript beschriebenen Untersuchungen am Menschen wurden mit Zustimmung der zuständigen Ethik-Kommission, im Einklang mit nationalem Recht sowie gemäß der Deklaration von Helsinki von 1975 (in der aktuellen, überarbeiteten Fassung) durchgeführt. Von allen beteiligten Patienten liegt eine Einverständniserklärung vor.

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Rhiem, K. Präventive operative Optionen für Frauen mit einer familiären Brust- und Eierstockkrebsbelastung. medgen 27, 231–236 (2015). https://doi.org/10.1007/s11825-015-0046-2

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Schlüsselwörter

  • Mammakarzinom
  • Ovarialkarzinom
  • Prophylaktische Operationen
  • BRCA1
  • BRCA2

Keywords

  • Breast cancer
  • Ovarian cancer
  • Risk-reducing surgery
  • BRCA1
  • BRCA2