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Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
- Source :
-
Clinical genetics [Clin Genet] 2014 Jan; Vol. 85 (1), pp. 72-5. Date of Electronic Publication: 2013 Jul 16. - Publication Year :
- 2014
-
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.<br /> (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Adult
Aged
Austria
Female
Hereditary Breast and Ovarian Cancer Syndrome diagnosis
Hereditary Breast and Ovarian Cancer Syndrome epidemiology
Hereditary Breast and Ovarian Cancer Syndrome genetics
Hereditary Breast and Ovarian Cancer Syndrome prevention & control
Hereditary Breast and Ovarian Cancer Syndrome therapy
Heterozygote
Humans
Incidence
Mastectomy
Middle Aged
Mutation Rate
Ovariectomy
Surveys and Questionnaires
Genes, BRCA1
Genes, BRCA2
Genetic Testing
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 85
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23772696
- Full Text :
- https://doi.org/10.1111/cge.12216