Hereditäre Mamma- und Genitalkarzinome

Kernaussagen

• Bei 5 % aller Mammakarzinome bzw. Dickdarmkarzinome liegt ein monogener Erbgang zugrunde.

• Wird eine BRCA-Mutation nachgewiesen, besteht ein Erkrankungsrisiko von ca. 85 % für ein Mamma- und von ca. 40 % für ein Ovarialkarzinom.

• Trägerinnen einer pathogenen Mutation in einem der 4 MMR-Gene haben ein Lebenszeitrisiko von 40 – 80 % für ein kolorektales Karzinom, von 40 – 60 % für ein Endometriumkarzinom und von 10 – 126 % für ein Ovarialkarzinom.

• Statistisch gesehen kann bei 50 % der Ratsuchenden aus einer positiv getesteten Familie eine Mutation durch eine prädiktive Testung ausgeschlossen und damit eine Entlastung ausgesprochen werden.

• Die prophylaktische beidseitige Salpingo-Oophorektomie ist bei BRCA-Mutationsträgerinnen ab dem 40. Lebensjahr bzw. 5 Jahre vor dem jüngsten Ersterkrankungsalter an Eierstockkrebs in der Familie indiziert.

• Die Beratung über eine prophylaktische beidseitige Mastektomie bei BRCA-Mutationsträgerinnen sollte nicht-direktiv erfolgen und die Optionen der Sofortrekonstruktion beinhalten.

• In der Beratung über eine kontralaterale prophylaktische Mastektomie bei erkrankten BRCA-Mutationsträgerinnen sollten das betroffene Gen, Ersterkrankungsalter und Erkrankungsprognose berücksichtigt werden.

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