Hereditary breast and ovarian cancer

The role of genetics in virtually all forms of gynecologic cancer has received intense interest in both the research and clinical community during the past decade. This interest surged even further in light of the identification of the BRCA1 and BRCA2 genes and their ultimate cloning. Even though there is still a lack of well-designed population-based studies able to define the actual incidence of BRCA-linked BC and OC, the possible identification of women at genetic high risk for BC/OC has represented an essential step toward a decrease in cancer mortality rates. There is a strong variability in penetrance and studies on genetic and environmental factors potentially affecting penetrance are in progress. To date, there is no clear evidence for a significant irfipact of any preventative strategy on cancer risk/mortality in this setting. Nevertheless, counseling on prevention measures is strongly requested by high-risk individuals, whereas data from controlled trials are expected to be available in the next few years. By now, it should be mandatory to treat such individuals at experienced counseling clinics, within IRB-supervised protocols. Increasing is the amount of data about chemoprevention and the inclusion of high-risk subjects in controlled trials should be encouraged. Prophylactic surgery has been shown to decrease cancer risk, but it is less than expected and should only be considered in specific conditions.