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Geburtshilfe Frauenheilkd 2017; 77(01): 36-40
DOI: 10.1055/s-0042-122159
GebFra Magazin
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Georg Thieme Verlag KG Stuttgart · New York

Hereditäre Tumordiagnostik – Mammakarzinom: BRCA1, BRCA2 und derzeitiger Stand der Multigenanalysen

Eric Hahnen
,
Barbara Wappenschmidt
,
Kerstin Rhiem
,
Rita Schmutzler
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Publication History

Publication Date:
30 January 2017 (online)

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Fazit

Obwohl für einige der neuen Risikogene erste belastbare Daten erhoben wurden ([Tab. 2]), ist die Datenlage für viele Gene z. B. zu den altersabhängigen Erkrankungsrisiken oder Genotyp-Phänotyp-Korrelationen noch unzureichend. Die Erkrankungsrisiken sind genspezifisch und häufig niedriger als für BRCA1/2-Mutationsträgerinnen ([Tab. 2]). Für die übrigen Gene müssen die altersabhängigen Erkrankungsrisiken in prospektiven Kohortenstudien ermittelt werden, die eine wesentliche Aufgabe des DKFBE gemeinsam mit internationalen Kooperationspartnern darstellen. Kritisch ist insbesondere der Umgang mit VUS. Wird kein Recall-System angeboten, dann sollten Ratsuchende darauf bestehen, über die bei ihnen gefundenen VUS umfassend informiert zu werden. Eine Multigenanalyse erfordert begleitende wissenschaftliche Untersuchungen zur Etablierung und Evaluation effektiver Präventions- und Therapiemaßnahmen.

 

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