Konsensusempfehlung des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs zum Umgang mit Ergebnissen der Multigenanalyse

Das Deutsche Konsortium Familiärer Brust- und Eierstockkrebs (GC-HBOC) hat für die Analyse von Risikogenen für das familiäre Mamma- und Ovarialkarzinom ein Multigen-Panel (TruRisk^®) etabliert, das derzeit die Kerngene („core genes“) ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D und TP53 enthält, sowie weitere Gene, die aus aktuellen Forschungsarbeiten hervorgegangen sind und noch validiert werden müssen. Das syndromassoziierte Gen PTEN befindet sich hinsichtlich seiner Bedeutung in Familien mit prädominantem Brust- und Eierstockkrebs-Phänotyp derzeit ebenfalls in der Evaluation. Ein interdisziplinäres Expertenteam des GC-HBOC hat die verfügbaren Daten zur Risikomodifikation bei Vorliegen einer pathogenen (krankheitsverursachenden) Mutation in diesen Genen basierend auf einer strukturierten Literaturrecherche (Abb. 1S) und im Rahmen eines formalen Konsensusprozesses bewertet. Ziel dieser Arbeit ist es, das individuelle Erkrankungsrisiko besser einschätzen und auf dieser Basis klinische Empfehlungen ableiten zu können. Auf der Grundlage dieser evidenzbasierten Bewertung werden die Ratsuchenden in den Zentren des Deutschen Konsortiums vom Erstgespräch vor Gentest bis zur Inanspruchnahme individueller risikoadaptierter präventiver/therapeutischer Maßnahmen beraten und betreut. Dieser Artikel fasst die konsentierten Inhalte zusammen.

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