Aktuelle Empfehlungen zur Prävention und Therapie des familiären Mammakarzinoms

Zusammenfassung

Unterschiede zwischen genetisch bedingten und sporadisch auftretenden Mammakarzinomen kristallisieren sich zunehmend heraus; diese werden die Behandlung des familiären Mammakarzinoms in Zukunft noch mehr beeinflussen als heute. Die Rolle von Carboplatin in der systemischen Therapie des BRCA-assoziierten Mammakarzinoms und von PARP-Inhibitoren auch bei BRCA-assoziierten Ovarialkarzinomen wird in internationalen Studien evaluiert. Aber bereits jetzt gilt es, die Maßnahmen der Prävention angesichts der hohen Erkrankungsrisiken wahrzunehmen. Bei Trägerinnen einer pathogenen Mutation in den Genen BRCA1 und BRCA2 besteht ein lebenslanges Risiko für ein Mammakarzinom von bis zu 80 % und für ein Ovarialkarzinom von bis zu 54 %. Neben der Teilnahme an einem intensivierten Früherkennungsprogramm ist auch die Durchführung prophylaktischer Operationen mit Entfernung der Brustdrüse und der Adnexe zur Risikominimierung möglich. Die Betreuung von Risikopatientinnen in den 12 Zentren des Deutschen Konsortiums für Familiären Brust- und Eierstockkrebs erfolgt unter Studienbedingungen. Wissenschaftliche Erkenntnisse auf den Gebieten der radiologischen Diagnostik, Tumorgenese, Tumortherapie und Lebensqualität werden sich davon ableiten. Die aktuellen Empfehlungen des Deutschen Konsortiums zum Management des familiären Mammakarzinoms werden im Folgenden beschrieben.

Abstract

The differences between genetic and sporadic breast cancer are becoming increasingly obvious and this will therefore have an impact on the treatment of hereditary breast cancer in future. The benefit of carboplatin in the therapy of the BRCA-associated breast and ovarian cancer and of PARP-inhibitors is currently being evaluated in international trials. The lifetime risk for carriers of a pathogenic mutation in the genes BRCA1 and BRCA2 is as high as 80 % for breast cancer and up to 54 % for ovarian cancer. In addition to participating in an intensified surveillance program, prophylactic breast and ovarian surgery are options which may reduce risk. The medical care of at-risk patients in the 12 centers of the German Consortium for Hereditary Breast and Ovarian Cancer is carried out under trial conditions. The research findings in the fields of radiological diagnostics, tumorigenesis, systemic therapy, and quality of life will be analyzed. The current recommendations of the German Consortium regarding the management of hereditary breast cancer are described here.

Schlüsselwörter

BRCA1 - BRCA2 - Therapie - prophylaktische Operation - Präventionsprogramm

Key words

BRCA1 - BRCA2 - therapy - prophylactic operation - prevention program

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