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.

Source

Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.

Abstract

OBJECTIVES:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

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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