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KMID : 1137020170280050011
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Journal of Gynecologic Oncology
2017 Volume.28 No. 5 p.11 ~ p.11
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Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates
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Helpman Limor
Zidan Omri
Friedman Eitan
Kalfon Sarit
Perri Tamar
Ben Baruch Gilad
Korach Jacob
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Abstract
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Objective: The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status.
Methods: Consecutive 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.
Results: One 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.
Conclusion: BRCA 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.
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KEYWORD
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BRCA1, BRCA2, Glandular and Epithelial Neoplasms, Ovarian Neoplasms, Young Adult, Women
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