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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Dr. med. Karin Kast
Klinik und Poliklinik für Frauenheilkunde und Geburtshilfe
Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstraße 74
01307 Dresden
Email: karin.kast@uniklinikum-dresden.de
