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BRCA1/2 突变携带者对降低风险的输卵管卵巢切除术的接受度非常高:一项单中心经验。

Very high uptake of risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers: A single-center experience.

作者信息

Harmsen M G, Arts-de Jong M, Horstik K, Manders P, Massuger L F A G, Hermens R P M G, Hoogerbrugge N, Woldringh G H, de Hullu J A

机构信息

Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands.

Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Gynecol Oncol. 2016 Oct;143(1):113-119. doi: 10.1016/j.ygyno.2016.07.104. Epub 2016 Jul 16.

DOI:10.1016/j.ygyno.2016.07.104
PMID:27430397
Abstract

OBJECTIVE

Risk-reducing salpingo-oophorectomy (RRSO) is the only effective surgical strategy to reduce the increased risk of epithelial ovarian cancer in BRCA1/2 mutation carriers. Given the long-term health consequences of premature surgical menopause, we need insight in uptake and timing of RRSO to guide us in improving healthcare.

METHODS

A single-center retrospective cohort study of BRCA1/2 mutation carriers diagnosed and counseled at the multidisciplinary Family Cancer Clinic of the Radboud university medical center in Nijmegen, The Netherlands, between 1999 and 2014. Descriptive statistics were used to analyze uptake and timing of RRSO.

RESULTS

Data of 580 BRCA1/2 were analyzed. The uptake of RRSO among mutation carriers who are currently above the upper limit of the recommended age for RRSO, is 98.5% and 97.5% for BRCA1 and BRCA2 mutation carriers, respectively. The vast majority undergoes RRSO ≤40 (BRCA1) or ≤45 (BRCA2) years of age, provided that mutation status is known by that age: 90.8% and 97.3% of BRCA1 and BRCA2 mutation carriers, respectively.

CONCLUSIONS

The uptake of RRSO among BRCA1/2 mutation carriers who were counseled at our Family Cancer Clinic is extremely high. High uptake might be largely attributed to the directive and uniform way of counseling by professionals at our Family Cancer Clinic. Given the fact that RRSO is often undergone at premenopausal age in our population, future research should focus on minimizing long-term health consequences of premature surgical menopause either by optimization of hormone replacement therapy or by investigating alternative strategies to RRSO.

摘要

目的

降低风险的输卵管卵巢切除术(RRSO)是降低BRCA1/2基因突变携带者上皮性卵巢癌风险增加的唯一有效手术策略。鉴于过早手术绝经对长期健康的影响,我们需要了解RRSO的接受情况和时机,以指导我们改善医疗保健。

方法

对1999年至2014年期间在荷兰奈梅亨拉德堡德大学医学中心多学科家庭癌症诊所确诊并接受咨询的BRCA1/2基因突变携带者进行单中心回顾性队列研究。采用描述性统计分析RRSO的接受情况和时机。

结果

分析了580例BRCA1/2的数据。目前超过RRSO推荐年龄上限的突变携带者中,BRCA1和BRCA2突变携带者的RRSO接受率分别为98.5%和97.5%。绝大多数人在≤40岁(BRCA1)或≤45岁(BRCA2)时接受RRSO,前提是在该年龄已知突变状态:BRCA1和BRCA2突变携带者分别为90.8%和97.3%。

结论

在我们家庭癌症诊所接受咨询的BRCA1/2突变携带者中,RRSO的接受率极高。高接受率可能很大程度上归因于我们家庭癌症诊所专业人员的指导性和统一咨询方式。鉴于在我们的人群中RRSO通常在绝经前年龄进行,未来的研究应集中于通过优化激素替代疗法或研究RRSO的替代策略来尽量减少过早手术绝经的长期健康后果。

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