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학술저널
저자정보
정유연 (가톨릭대학교) 허수영 (가톨릭대학교) JingJing Liu (Seoul St. Mary's Hospital) 이산하 (Seoul St. Mary's Hospital) Byung Soo Kang (The Catholic University of Korea) 김명신 (가톨릭대학교) 최윤진 (가톨릭대학교)
저널정보
대한부인종양학회 Journal of Gynecologic Oncology Journal of Gynecologic Oncology Vol.32 No.2
발행연도
2021.1
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1 - 9 (9page)

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Objective: Familial cancer appears at a young age and its incidence is increasing. About 12%of familial ovarian cancer cases are associated with BRCA1/2 mutations (BRCAm). In thisstudy, we investigated BRCA1 methylation may predict ovarian cancer in those with a familyhistory of cancer (FHC) but without BRCA1/2 mutations (BRCAwt). Methods: Using peripheral blood DNA from 55 subjects without a history of cancer[cancer(−)] and 52 ovarian cancer patients, we examined BRCA1 promoter methylationthrough bisulfite sequencing of the promoter and expressed the results as the cumulativemethylation index. Then, we evaluated the BRCA1 promoter methylation according to BRCA1/2germline mutations. Results: BRCA1 methylation was more prevalent in the BRCAm cancer(−) group than in theBRCAwt cancer(−) group and ovarian cancer patients (p=0.031 and p=0.019, respectively). Inthe BRCAwt cancer(−) group, BRCA1 methylation was more prevalent in those with an FHCthan in those without one and in the BRCAm cancer(−) group with an FHC (p=0.001 andp<0.001, respectively). Conclusion: Our data suggest a predictive role of BRCA1 methylation profile for ovarian cancer inthose without a history of cancer but with an FHC. BRCA1 methylation has important implicationsfor diagnostic and predictive testing of those with BRCAwt cancer(−) status with FHC.

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