Genetic predisposition to ovarian cancer in Ashkenazi Jewish families

grantor: University of TorontoInherited mutations in the BRCA1 and BRCA2 genes confer a high risk for breast and ovarian cancer in certain families. To determine the spectrum of germline BRCA1 and BRCA2 mutations, 51 Ashkenazi Jewish ovarian cancer families of varying risks for developing breast and/or ovarian cancer were analyzed. Recurrent mutations were identified in 31% (15/51) of families. Ten of sixteen (63%) high-risk families were attributed to recurrent mutations (BRCA1 185delAG, 5382insC, and BRCA2 6174delT). Fourteen families harboured BRCA1 mutations, and one family had a BRCA2 mutation. This was significantly greater than the number of carriers in the medium-risk (17%, 3/17) and (13%, 2/15) low-risk families. Additionally, there was a positive association between BRCA1 mutations and the number of ovarian cancers in families, in the presence or absence of a family history of breast cancer.M.Sc