Nothing to declare.
Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria
Article first published online: 16 JUL 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Special Issue: BRCA1 and BRCA2
Volume 85, Issue 1, pages 72–75, January 2014
How to Cite
Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria., , , , , , , , , .
- Issue published online: 12 DEC 2013
- Article first published online: 16 JUL 2013
- Accepted manuscript online: 17 JUN 2013 01:25PM EST
- Manuscript Revised: 12 JUN 2013
- Manuscript Accepted: 12 JUN 2013
- Manuscript Received: 3 MAY 2013
- breast cancer;
The 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.