• C F Singer, D Muhr, C Rappaport, M-K Tea, D Gschwantler-Kaulich, A Fink-Retter, G Pfeiler, A Berger, P Sun, and S A Narod.
• Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
• Clin. Genet. 2014 Jan 1;85(1):72-5.

AbstractThe objective of this study was to describe the experience of genetic testing in Austrian women with a BRCA1 or BRCA2 mutation in terms of preventive measures taken and incident cancers diagnosed. We collected clinical information on 246 Austrian women with a BRCA1 or BRCA2 mutation tested between 1995 and 2012 and followed 182 of them for an average of 6.5 years. Of the 90 women who were cancer-free at baseline, 21.4% underwent preventive bilateral mastectomy, 46.1% had preventive bilateral salpingo-oophorectomy, and 1 took tamoxifen; 58.8% of the at-risk women underwent at least one screening breast magnetic resonance imaging (MRI). Of the 85 women with breast cancer, 69.4% had a unilateral mastectomy or lumpectomy and 30.6% had a contralateral mastectomy. In the follow-up period, 14 new invasive breast cancers (6 first primary and 8 contralateral), 1 ductal carcinoma in situ case, 2 incident ovarian cancer cases, and 1 peritoneal cancer were diagnosed. In Austria, the majority of healthy women with a BRCA1 or BRCA2 mutation opt for preventive oophorectomy and MRI screening to manage their breast cancer risk; few have preventive mastectomy or take tamoxifen.© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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