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影响携带 BRCA1/2 致病性变异的个体在专门的遗传性卵巢癌诊所行预防性手术时进行手术决策的因素。

Factors affecting surgical decision-making in carriers of BRCA1/2 pathogenic variants undergoing risk-reducing surgery at a dedicated hereditary ovarian cancer clinic.

机构信息

Department of Obstetrics & Gynecology, Women's College Hospital, Toronto, Canada.

Department of Obstetrics & Gynecology, Sinai Health System, Toronto, Canada.

出版信息

Menopause. 2021 Dec 6;29(2):151-155. doi: 10.1097/GME.0000000000001900.

Abstract

OBJECTIVE

Women with germline BRCA1/2 pathogenic variants have a significantly elevated lifetime risk of ovarian and fallopian tube cancer. Bilateral salpingo-oophorectomy (RRSO) is associated with a 90% reduction in the development of tubal and ovarian cancer. At our tertiary hospital, we have a dedicated clinic where women predisposed to hereditary ovarian/tubal cancer receive counseling on reproduction, risk reduction, surgical prophylaxis, and menopausal aftercare. The objective of this study was to evaluate the choices that Canadian women with BRCA1/2 pathogenic variants make regarding ovarian cancer risk reduction within this highly specialized multidisciplinary clinic.

METHODS

This retrospective chart review included all women with confirmed BRCA1/2 mutations referred to the Familial Ovarian Cancer Clinic at Women's College Hospital, Toronto, Canada over a 45-month time period. Patient demographics, preoperative consultation notes and investigations, intraoperative findings, and pathology were recorded.

RESULTS

A total of 191 women were included in our cohort; 140 (73.3%) underwent risk-reducing surgery and 51 (26.7%) deferred or declined surgery. In women who underwent surgical prevention (median age 45 [30-72] y), 123 (87.9%) underwent RRSO and 17 (12.1%) chose a risk-reducing bilateral salpingectomy with deferred oophorectomy. Of the women undergoing RRSO, 11 (8.9%) women chose concurrent hysterectomy. Prevalent themes affecting decision-making included fears around premature surgical menopause, family planning, and concerns around development of endometrial cancer related to tamoxifen.

CONCLUSION

Women with BRCA1/2 pathogenic variants face challenging decisions regarding risk reduction and care providers must be knowledgeable and supportive in helping women make informed and individualized choices about their care.

摘要

目的

携带胚系 BRCA1/2 致病性变异的女性终生患卵巢癌和输卵管癌的风险显著增加。双侧输卵管卵巢切除术(RRSO)可使输卵管和卵巢癌的发病风险降低 90%。在我们的三级医院,有一个专门的诊所,为易患遗传性卵巢/输卵管癌的女性提供关于生殖、降低风险、手术预防和绝经后护理的咨询。本研究的目的是评估加拿大携带 BRCA1/2 致病性变异的女性在这个高度专业化的多学科诊所中对降低卵巢癌风险的选择。

方法

这项回顾性图表研究纳入了在加拿大多伦多的 Women's College Hospital 的遗传性卵巢癌诊所就诊的所有经证实的 BRCA1/2 突变携带者。记录了患者的人口统计学资料、术前咨询记录和检查、术中发现以及病理结果。

结果

共有 191 名女性纳入我们的队列;140 名(73.3%)接受了降低风险的手术,51 名(26.7%)推迟或拒绝手术。在接受手术预防的女性中(中位年龄 45 [30-72] 岁),123 名(87.9%)接受了 RRSO,17 名(12.1%)选择了双侧输卵管预防性切除术,随后卵巢推迟切除。在接受 RRSO 的女性中,11 名(8.9%)选择同时行子宫切除术。影响决策的主要因素包括对过早手术性绝经的恐惧、计划生育以及对与他莫昔芬相关的子宫内膜癌发展的担忧。

结论

携带 BRCA1/2 致病性变异的女性在降低风险方面面临着具有挑战性的决策,医务人员必须具备相关知识,并提供支持,帮助女性就其护理做出明智和个体化的选择。

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