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上皮性卵巢癌、输卵管癌或原发性腹膜癌患者中种系/基因检测的采用与检测后管理策略的实施之间的差异。

Disparities between Uptake of Germline / Gene Tests and Implementation of Post-test Management Strategies in Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients.

机构信息

Department of Obstetrics and Gynecology, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Korea.

Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea.

出版信息

J Korean Med Sci. 2021 Oct 4;36(38):e241. doi: 10.3346/jkms.2021.36.e241.

Abstract

BACKGROUND

To assess the rate of germline gene tests in epithelial ovarian cancer (EOC) patients and uptake of post-test risk management strategies in /-mutated patients.

METHODS

Institutional databases were searched to identify patients who were diagnosed with epithelial ovarian, fallopian tube, or primary peritoneal cancer (EOC) between 2009 and 2019 in two academic hospitals. Retrospective review on medical records was performed to collect clinico-pathologic variables, including performance of germline gene test and its results, as well as conduct of breast cancer screening tests and cascade testing. If annual mammography +/- breast ultrasonography was performed, it was considered that regular breast cancer surveillance was done.

RESULTS

A total of 840 women with EOC were identified during the study period. Of these, 454 patients (54.0%) received gene testing and 106 patients (106/454, 23.3%) were positive for mutations. The rate of tests has markedly increased from 25.8% in 2009-2012 to 62.7% in 2017-2019. Among the 93 patients with mutation without previous personal breast cancer history, 20 patients (21.5%) received annual mammography with or without breast ultrasonography for regular surveillance. Among the 106 -mutated EOC patients, cascade testing on family members was performed only in 13 patients (12.3%).

CONCLUSION

Although gene tests have been substantially expanded, the uptake of post-test risk management strategies, including breast cancer screening for -mutated patients and cascade testing for family members, has remained low. Strategies to increase its uptake and education about the importance of post-test risk managements are needed.

摘要

背景

评估上皮性卵巢癌(EOC)患者种系基因检测的比例以及 -突变患者接受检测后风险管理策略的比例。

方法

检索两个学术医院的机构数据库,以确定 2009 年至 2019 年间被诊断为上皮性卵巢癌、输卵管癌或原发性腹膜癌(EOC)的患者。对病历进行回顾性分析,收集临床病理变量,包括种系基因检测及其结果,以及乳腺癌筛查测试和级联测试的实施情况。如果每年进行乳房 X 线摄影 +/-乳房超声检查,则认为进行了常规乳腺癌监测。

结果

研究期间共确定了 840 名 EOC 女性患者。其中,454 名患者(54.0%)接受了 基因检测,106 名患者(106/454,10.6%)为 突变阳性。2009-2012 年的检测率为 25.8%,2017-2019 年的检测率为 62.7%,基因检测率显著增加。在 93 名无既往个人乳腺癌病史的 突变患者中,20 名患者(21.5%)接受了每年一次的乳房 X 线摄影或乳房超声检查,以进行常规监测。在 106 名 -突变的 EOC 患者中,仅对 13 名患者(12.3%)进行了家庭成员的级联检测。

结论

尽管种系基因检测已大大扩展,但包括 -突变患者的乳腺癌筛查和家庭成员的级联检测在内的检测后风险管理策略的采用率仍然较低。需要采取措施提高其采用率,并对检测后风险管理的重要性进行教育。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6702/8490789/40baed67034a/jkms-36-e241-g001.jpg

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