Onkologie. Relevante Genmutationen bei familiärem Brust- und Eierstockkrebs

Jährlich erkranken in Deutschland ca. 57 000 Frauen an einem Mammakarzinom, wovon 10 % als hereditär angesehen werden. Aufgrund des familiär häufig gemeinsamen Vorkommens von Mamma- und Ovarialkarzinomen spricht man vom „hereditären Mamma- und Ovarialkarzinomsyndrom“ (HBOC) [1]. Seit geraumer Zeit sind Keimbahnmutationen bekannt, die für das hereditäre Mamma- und Ovarialkarzinom ursächlich sind [1]. Mithilfe moderner Sequenzierungstechnologien können per Multigenanalyse bis zu 100 Gene parallel untersucht werden, doch deren klinische Bedeutung muss noch validiert werden. Welche klinischen Empfehlungen dennoch heute schon ausgesprochen werden können, wenn eine bestimmte Mutation vorliegt, lesen Sie im Folgenden.

• Literatur

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