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      저자 : Hiroki Den (검색결과 1 건)
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        Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy

        Masayuki Sekine,Takayuki Enomoto,Masami Arai,Hiroki Den,Hiroyuki Nomura,Takeshi Ikeuchi,Seigo Nakamura 대한부인종양학회 2022 Journal of Gynecologic Oncology Vol.33 No.4

        Objective: and mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) by age 40 and 45, respectively. However, the carriers have a different way of thinking about their life plan. We aimed to investigate the distribution of age at diagnosis of ovarian cancer (OC) patients to examine the optimal timing of RRSO in the carriers. Methods: We examined a correlation between age at diagnosis of OC and common mutation types in 3,517 probands that received genetic testing. Among them, germline mutation (g m), germline mutation (g m) and germline wild-type (g wt) were found in 185, 42 and 241 OC patients, respectively. Results: The average age at diagnosis of OC in g m and g m was 51.3 and 58.3 years, respectively, and the difference from g wt (53.8 years) was significant. Theg m carriers did not develop OC under the age of 40. The average age was 50.1 years for L63X and 52.8 years for Q934X in , and 55.1 years for R2318X and 61.1 years for STOP1861 in . The age at diagnosis in L63X or R2318X carriers was relatively younger than other or carriers, however their differences were not significant. With L63X and R2318X carriers, 89.4% (42/47) and 100% (7/7) of women were able to prevent the development of OC, respectively, when RRSO was performed at age 40. Conclusion: There appears to be no difference in the age at diagnosis of OC depending on the type of common mutation. Further analysis would be needed.

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