Cancer Etiology - BRCA1 and BRCA2 Mutation Frequencies and Cancer in Ontario, Cancer


Harvey A. Risch

BRCA1 and BRCA2 mutations in general populations and in various types of cancers have not been well characterized. CDE faculty have investigated the presence of these mutations in unselected patients with newly diagnosed incident ovarian cancer in Ontario, Canada, in relation to cancers reported among their relatives. CDE faculty, along with Canadian researchers and medical institutions, calculated the relative risks and penetrances of BRCA1 and BRCA2 mutations associated with a range of cancers, as well as the prevalences of these mutations in Ontario’s general population. The findings showed that BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various cancer types. Additionally, the study showed little increased risk of breast and ovarian cancer associated with different BRCA2 mutations, which has implications for establishing appropriate prophylactic treatment guidelines.

Currently, CDE faculty and collaborators are obtaining funding for a follow–up study in Ontario to research the different mutations and their varied impacts more specifically.