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妇科遗传性癌症:医生应了解的遗传检测、筛查和降低风险知识。

Hereditary Cancers in Gynecology: What Physicians Should Know About Genetic Testing, Screening, and Risk Reduction.

机构信息

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Virginia Health System, Box 800712, Charlottesville, VA 22908-0712, USA.

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Virginia Health System, Box 800712, Charlottesville, VA 22908-0712, USA.

出版信息

Obstet Gynecol Clin North Am. 2018 Mar;45(1):155-173. doi: 10.1016/j.ogc.2017.10.011.

Abstract

Obstetrician gynecologists play a critical role in the identification of women who may carry a germline mutation placing them at an increased lifetime risk of gynecologic and nongynecologic cancers. Given this, all gynecologists must have a basic understanding of the most common hereditary cancer syndromes, the associated cancer risks, and possible risk-reducing interventions to play a proactive role in the care of these women. This article presents general guidelines and potential tools for identification of high-risk patients, reviews the current literature regarding genetic mutations associated with gynecologic malignancies, and proposes screening and risk-reduction options for high-risk patients.

摘要

妇产科医生在识别可能携带种系突变的女性方面发挥着关键作用,这些突变会使她们终生面临妇科和非妇科癌症的风险增加。考虑到这一点,所有的妇产科医生都必须对最常见的遗传性癌症综合征、相关的癌症风险以及可能的降低风险干预措施有基本的了解,以便在这些女性的护理中发挥积极作用。本文介绍了识别高危患者的一般指南和潜在工具,回顾了与妇科恶性肿瘤相关的遗传突变的现有文献,并为高危患者提出了筛查和降低风险的选择。

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