Abstract

Purpose: To compare the clinical characteristics and survival of Ashkenazi Jewish ovarian cancer patients with and without BRCA1 and BRCA2 mutations. Methods: An unselected series of 118 Ashkenazi Jewish ovarian cancer patients were screened for the three common founder mutations in BRCA1 and BRCA2. Patient survival and other clinical characteristics of the tumours were compared in patients with BRCA1 or BRCA2 mutations and those without mutations. Results: Twenty-seven individuals with invasive carcinomas were found to have mutations (14 with 185delAG and one with 5382insC in BRCA1 and 12 with 6174delT in BRCA2). No mutations were identified in the 20 patients with borderline tumours. For the invasive carcinomas, there was a survival advantage forBRCA1 and BRCA2 patients compared to patients without mutations, though the differences were not statistically significant. There were no significant differences in the histopathological characteristics of the tumours between the patient groups. Conclusion: These results are similar to those of other studies and suggest that ovarian cancer in BRCA1 and BRCA2 mutation carriers may have a distinct clinical behaviour.

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