Clin Genet. 2013 Jun 17. doi: 10.1111/cge.12216. [Epub ahead of print]
Clinical Implications of Genetic Testing for BRCA1 and BRCA2 Mutations in Austria.
Singer CF, Muhr D, Rappaport C, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Pfeiler G, Berger A, Sun P, Narod SA.
Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
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 (PBM), 46.1% had preventive bilateral salpingo-oophrectomy, and one took tamoxifen. 58.8% of the at-risk women underwent at least one screening breast 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 (six first primary and eight contralateral), one DCIS case, two incident ovarian cancer cases, and one 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.
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