Hasegawa Yuri, Miura Shoko, Nagata Koh, Komatsu Nahoko, Nagata Ai, Matsumoto Megumi, Matsumoto Keitaro, Miura Kiyonori
Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Surgical Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Cureus. 2025 Aug 22;17(8):e90772. doi: 10.7759/cureus.90772. eCollection 2025 Aug.
Introduction Risk-reducing salpingo-oophorectomy (RRSO) can substantially reduce ovarian cancer incidence in women carrying pathogenic or variants, which cause hereditary breast and ovarian cancer syndrome. The decision to undergo RRSO or continue surveillance is influenced by personal background and psychosocial factors, but the process in Japan has not been well studied. Even among women who ultimately choose RRSO, some proceed promptly, while others delay. This study aimed to identify factors associated with the decision to undergo RRSO and to examine the timing of that decision, specifically whether it occurred within 365 days of genetic testing. Methods We retrospectively reviewed records of patients who either (1) had breast cancer and were found to carry a pathogenic variant, or (2) had a family history and were confirmed as carriers. testing was performed using next-generation sequencing covering all coding regions and exon-intron boundaries, with confirmatory Sanger sequencing. Data collected included age at consultation, parity, history of breast cancer and treatment, genetic testing date and result, RRSO date, insurance coverage, pathology findings, and reasons for surveillance. Multivariable logistic regression assessed factors associated with undergoing RRSO and with undergoing RRSO within 365 days. Kaplan-Meier analysis and Cox regression were used to evaluate time-to-RRSO. Statistical significance was set at p < 0.05. Results A total of 70 patients were analyzed (mean age 47.8 years (SD 13.1); 55 (78.6%)) had breast cancer. Pathogenic variants were in (n=26, 37.1%) or (n=44, 62.9%). A total of 32 patients (45.7%) underwent RRSO. Multivariable analysis showed age >45 years (p = 0.0202, OR: 4.00, 95% CI: 1.24-12.9) and breast cancer history (p = 0.0247, OR: 7.68, 95% CI: 1.30-45.4) were significantly associated with RRSO. Among those undergoing RRSO within 365 days, carriers were more likely than carriers to have early surgery (p = 0.0471, OR: 6.81, 95% CI: 1.02-45.3). Kaplan-Meier analysis showed shorter median time to RRSO for carriers (565 days) vs. carriers (1,015 days); Cox regression findings were consistent. Conclusion Age and breast cancer history were important factors in the decision to undergo RRSO. Earlier RRSO among carriers suggests that genetic counseling effectively conveys their higher and earlier ovarian cancer risk. These results highlight the importance of individualized counseling that considers each patient's background, supporting informed decisions about both RRSO uptake and timing.
引言 降低风险的输卵管卵巢切除术（RRSO）可大幅降低携带致病或疑似致病变异体、从而导致遗传性乳腺癌和卵巢癌综合征的女性患卵巢癌的几率。接受RRSO或继续监测的决定受个人背景和社会心理因素影响，但日本的这一过程尚未得到充分研究。即使在最终选择RRSO的女性中，有些人行动迅速，而有些人则会拖延。本研究旨在确定与接受RRSO的决定相关的因素，并研究该决定的时机，特别是该决定是否在基因检测后的365天内做出。方法 我们回顾性分析了以下两类患者的记录：（1）患有乳腺癌且被发现携带致病变异体的患者，或（2）有家族病史且被确认为携带者的患者。基因检测采用覆盖所有编码区和外显子-内含子边界的二代测序，并进行验证性Sanger测序。收集的数据包括咨询时的年龄、生育情况、乳腺癌病史及治疗情况、基因检测日期及结果、RRSO日期、保险覆盖情况、病理检查结果以及监测原因。多变量逻辑回归分析评估与接受RRSO以及在365天内接受RRSO相关的因素。采用Kaplan-Meier分析和Cox回归评估RRSO的时间。设定统计学显著性水平为p < 0.05。结果 共分析了70例患者（平均年龄47.8岁（标准差13.1）；55例（78.6%）患有乳腺癌）。致病变异体存在于BRCA（n = 26，37.1%）或BRCA（n = 44, 62.9%）中。共有32例患者（45.7%）接受了RRSO。多变量分析显示年龄>45岁（p =0.0202；OR：4.00；95%置信区间：1.24 - 12.9）和乳腺癌病史（p = 0.0247；OR：7.68；95%置信区间：1.30 - 45.4）与RRSO显著相关。在365天内接受RRSO的患者中，携带BRCA变异体的患者比携带BRCA变异体的患者更有可能接受早期手术（p = 0.0471；OR：6.81；95%置信区间：1.02 - 45.3）。Kaplan-Meier分析显示，携带BRCA变异体（565天）的患者接受RRSO的中位时间比携带BRCA变异体（1015天）的患者短；Cox回归结果与之相符。结论 年龄和乳腺癌病史是决定接受RRSO的重要因素。携带BRCA变异体的患者更早接受RRSO表明，遗传咨询有效地传达了他们更高且更早的卵巢癌风险。这些结果凸显了考虑每位患者背景的个性化咨询对于支持RRSO接受情况和时机的明智决策的重要性。
