Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: A systematic review†
Version of Record online: 30 APR 2007
Copyright © 2007 Wiley-Liss, Inc.
International Journal of Cancer
Volume 121, Issue 2, pages 225–231, 15 July 2007
How to Cite
Bermejo-Pérez, M.J., Márquez-Calderón, S. and Llanos-Méndez, A. (2007), Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: A systematic review. Int. J. Cancer, 121: 225–231. doi: 10.1002/ijc.22817
This study has been carried out in accordance with the guidelines set by Andalusian Agency for Health Technology Assessment within the framework foreseen in the Quality Plan for the National Health System, within the collaboration agreement endorsed by Instituto Carlos III, an autonomous body of the Ministry of Health, and by the Fundación Progreso y Salud in Andalusia.
- Issue online: 18 MAY 2007
- Version of Record online: 30 APR 2007
- Manuscript Accepted: 3 APR 2007
- Manuscript Received: 23 FEB 2007
- BRCA 1 or BRCA 2;
- prophylactic mastectomy;
- prophylactic oophorectomy;
A systematic review of the literature was conducted to assess the outcomes of preventive interventions (prophylactic surgery, intensive cancer screening, and chemoprevention) in women who carry mutations in BRCA1/2 genes, in terms of reducing breast and gynaecological cancer incidence and/or mortality. A search for relevant articles published between 1996 and 2005 (inclusive) was run on Medline, Embase and other databases. From the 749 journal articles retrieved from this search strategy, 18 studies were eligible for this review (2 systematic reviews, 10 cohort studies and 6 case-control studies). The critical appraisal of the studies was performed by two independent reviewers with a list of ad hoc selected criteria. The synthesis of results was qualitative. Mastectomy and prophylactic gynaecological surgery (oophorectomy or salpingo-oophorectomy) reduced breast and gynaecological cancer incidence in carriers of BRCA mutations, by comparison to surveillance. However, all the studies presented flaws in internal and external validity, none of these preventive interventions is risk-free, and protection against breast and gynaecological cancer, as well as other cancers linked to BRCA mutations, is incomplete. No studies comparing surveillance programmes of varying intensity were found. Exposure to drugs (tamoxifen, and oral contraceptives) in women carrying BRCA mutations was assessed through a limited number of papers. All of these were case-control studies with prevalent cases and presented major methodological flaws. © 2007 Wiley-Liss, Inc.