title: Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
abstract: 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.
authors.affiliation: Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
authors.forename: C F
authors.initials: CF
authors.lastname: Singer
authors.forename: D
authors.initials: D
authors.lastname: Muhr
authors.forename: C
authors.initials: C
authors.lastname: Rappaport
authors.forename: M-K
authors.initials: MK
authors.lastname: Tea
authors.forename: D
authors.initials: D
authors.lastname: Gschwantler-Kaulich
authors.forename: A
authors.initials: A
authors.lastname: Fink-Retter
authors.forename: G
authors.initials: G
authors.lastname: Pfeiler
authors.forename: A
authors.initials: A
authors.lastname: Berger
authors.forename: P
authors.initials: P
authors.lastname: Sun
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D000368:Aged; D001317:Austria; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D010052:Ovariectomy; D011795:Surveys and Questionnaires
keywords: BRCA1; BRCA2; breast cancer; prevention; risk