Introduction

The application of predictive genetics in oncology offers the opportunity, through a simple blood draw, to identify asymptomatic individuals carrying a predisposition to develop certain cancers. Specific recommendations regarding prevention and surveillance can be proposed to these individuals. Concomitantly, family members who are identified as non-carriers of the predisposing gene can be reassured. These persons are no longer considered ‘at high risk’ and return to the cancer risks of the general population. They can be withdrawn from often demanding screening protocols and can be reassured regarding the absence of risk of transmission of the predisposition to their children.

Here, we provide an overview of the options and issues in the management of women identified as being at high risk of developing breast or ovarian cancer, based on their personal and familial history, or through the identification of a germline BRCA1 or BRCA2 mutation.

Breast and ovarian cancers combined account for about one-third of all incident cancers in Canadian women, and for about one-fourth of all cancer deaths (Table 15.1). Primary care for survivors of sporadic breast cancer has been recently reviewed (Burstein and Winer, 2000), but women carrying genetic predisposition to breast/ovarian cancer have unique health issues. Approximately 3% of all breast cancer and 5–10% of all ovarian cancer is caused by germline mutations in breast/ovarian cancer susceptibility genes. The most important of these genes are BRCA1 and BRCA2, which were identified in 1994 and 1995 respectively (Rahman and Stratton, 1998; Welcsh et al., 1998).