Premium
Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria
Author(s) -
Singer CF,
Muhr D,
Rappaport C,
Tea MK,
GschwantlerKaulich D,
FinkRetter A,
Pfeiler G,
Berger A,
Sun P,
Narod SA
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12216
Subject(s) - medicine , lumpectomy , tamoxifen , breast cancer , oophorectomy , mastectomy , prophylactic mastectomy , genetic testing , mammography , gynecology , oncology , cancer , obstetrics , hysterectomy , surgery
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.