Objective: To determine the frequency of BRCA1 mutations 185delAG and 5382insC and BRCA2 mutation 6174delT in Jewish women with ovarian cancer and in matched controls in a population-based study.
Methods: Forty-eight Jewish women with epithelial ovarian cancer (32 invasive and 16 borderline) and 33 Jewish control subjects were obtained from a population-based, case-control study of ovarian cancer in eastern Massachusetts and New Hampshire. Mutational analysis on exons 2 and 20 of BRCA1 and exon 11 of BRCA2 was conducted on blood samples from patients and controls.
Results: Fourteen (44%) of 32 Jewish patients with invasive epithelial ovarian cancer carried either a 185delAG mutation of BRCA1 (n = 8) or a 6174delT mutation on BRCA2 (n = 6). Neither of these mutations was identified in 16 women with borderline ovarian tumors or in 33 controls. No 5382insC mutation of BRCA1 was identified in any of the patients or control subjects in the series. Family history did not predict mutation status.
Conclusion: BRCA1 185delAG and BRCA2 6174delT mutations are frequent in Jewish women with invasive epithelial ovarian cancer, irrespective of family history. Genetic counseling might be warranted in women with invasive epithelial ovarian cancer based on Jewish ethnicity alone.