Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates.

objectiveThe current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status.

methodsConsecutive EOC patients diagnosed at or below 50 years in a single institution between 1995-2011 were identified. All patients are referred for genetic counseling and testing for the predominant Jewish BRCA mutations: BRCA1-185delAG, BRCA1-5382insC, and BRCA2-6174delT. A comparison between BRCA mutation carriers and non-carriers was undertaken across demographic, pathologic, and clinical features; recurrence and survival were compared using the Kaplan-Meier method and associations with the variables of interest were analyzed using the Cox proportional hazards method.

resultsOne hundred eighty-six patients diagnosed with EOC at 50 years or younger were included, with a total follow-up of 1,088 person years. Mean age at diagnosis was 44±5 years. Of 113 patients with documented BRCA testing, 49.6% carried a germline BRCA mutation, compared with 29% in the general Israeli EOC population (p=0.001). BRCA mutation carriers had a higher rate of serous tumors (75% vs. 64%, p=0.040) and higher CA125 levels at diagnosis (median, 401 vs. 157, p=0.001) than non-carriers. No significant association between BRCA mutations and recurrence (hazard ratio [HR]=1.03; p=0.940) or survival (HR=1.40; p=0.390) was found.

conclusionBRCA mutations are encountered in almost 50% of young Israeli ovarian cancer patients; they are associated with serous tumors and high CA125 levels at diagnosis, but are not independently associated with recurrence or survival in this patient population.