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Cancer Epidemiol Biomarkers Prev. 2004 Dec;13(12):1989-95.

Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation.

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  • 1Department of Health Studies and Gerontology, University of Waterloo, 200 University Avenue West, Waterloo, Ontario, Canada N2L 3G1.



Women who are carriers of BRCA gene mutations have an elevated lifetime risk of developing breast or ovarian cancer. Although a number of risk-reducing options are currently available to mutation carriers, uncertainty exists in terms of their efficacy. A systematic review of the literature was conducted to describe the utilization of screening and preventive surgery among unaffected mutation carriers in the face of uncertainty.


MEDLINE, PubMed, and CANCERLIT, English-only computerized literature searches were done to identify articles pertaining to decisions made by unaffected BRCA mutation carriers to reduce risk of breast and ovarian cancer. Studies were required to include information on choices taken by at-risk women following disclosure of a positive BRCA test.


Only seven studies (5 American and 2 Dutch studies) were identified. The proportion of mutation carriers who chose preventive surgery over screening varied widely across the studies, ranging from 0% to 54% for prophylactic mastectomy and from 13% to 53% for prophylactic oophorectomy. Furthermore, a significant minority of women who chose surveillance failed to comply with the recommended schedule.


There is considerable variability within and between countries in risk reduction strategies utilized by healthy mutation carriers. This variability may relate to differences in (1) population characteristics; (2) recommendations for follow-up care of unaffected carriers; (3) prevailing values towards body integrity, femininity, and preventive surgery; and (4) health care funding systems. Future research needs to provide further insight into factors influencing women's decisions to adopt various risk reduction strategies.

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