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      • KCI등재

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

        Limor Helpman,Omri Zidan,Eitan Friedman,Sarit Kalfon,Tamar Perri,Gilad Ben-Baruch,Jacob Korach 대한부인종양학회 2017 Journal of Gynecologic Oncology Vol.28 No.5

        Objective: The current study investigates disease patterns and outcomes in young Israeliepithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. Methods: Consecutive EOC patients diagnosed at or below 50 years in a single institutionbetween 1995–2011 were identified. All patients are referred for genetic counseling andtesting for the predominant Jewish BRCA mutations: BRCA1-185delAG, BRCA1-5382insC,and BRCA2-6174delT. A comparison between BRCA mutation carriers and non-carriers wasundertaken across demographic, pathologic, and clinical features; recurrence and survivalwere compared using the Kaplan-Meier method and associations with the variables ofinterest ware analyzed using the Cox proportional hazards method. Results: One hundred eighty-six patients diagnosed with EOC at 50 years or younger wereincluded, 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 mutationcarriers had a higher rate of serous tumors (75% vs. 64%, p=0.040) and higher CA125 levelsat diagnosis (median, 401 vs. 157, p=0.001) than non-carriers. No significant associationbetween BRCA mutations and recurrence (hazard ratio [HR]=1.03; p=0.940) or survival(HR=1.40; p=0.390) was found. Conclusion: BRCA mutations are encountered in almost 50% of young Israeli ovarian cancerpatients; they are associated with serous tumors and high CA125 levels at diagnosis, but arenot independently associated with recurrence or survival in this patient population.

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