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具有子宫内膜癌和卵巢癌高风险的遗传性癌症综合征:个性化治疗的手术选择

Hereditary cancer syndromes with high risk of endometrial and ovarian cancer: surgical options for personalized care.

作者信息

McCann Georgia A, Eisenhauer Eric L

机构信息

Department of Obstetrics and Gynecology, University Of Texas Health Science Center, San Antonio, Texas.

出版信息

J Surg Oncol. 2015 Jan;111(1):118-24. doi: 10.1002/jso.23743. Epub 2014 Aug 20.

DOI:10.1002/jso.23743
PMID:25139656
Abstract

Cancer genomics has increased our recognition of specific hereditary cancer mutations. Hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome are two such entities in which women carrying specific mutations may be at high risk for developing breast, ovarian, and/or endometrial cancers. Risk reducing surgery such as prophylactic mastectomy, oophorectomy, and/or hysterectomy may allow women to decrease these risks after completing childbearing. Background, indications, and consequences of these procedures are reviewed.

摘要

癌症基因组学提高了我们对特定遗传性癌症突变的认识。遗传性乳腺癌和卵巢癌(HBOC)综合征以及林奇综合征就是这样的两种情况,携带特定突变的女性可能患乳腺癌、卵巢癌和/或子宫内膜癌的风险很高。诸如预防性乳房切除术、卵巢切除术和/或子宫切除术等降低风险的手术,可能使女性在完成生育后降低这些风险。本文对这些手术的背景、适应症和后果进行了综述。

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Hereditary cancer syndromes with high risk of endometrial and ovarian cancer: surgical options for personalized care.具有子宫内膜癌和卵巢癌高风险的遗传性癌症综合征:个性化治疗的手术选择
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引用本文的文献

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Endometrial Carcinoma, Grossing and Processing Issues: Recommendations of the International Society of Gynecologic Pathologists.子宫内膜癌,大体检查与处理问题:国际妇科病理学家协会的建议
Int J Gynecol Pathol. 2019 Jan;38 Suppl 1(Iss 1 Suppl 1):S9-S24. doi: 10.1097/PGP.0000000000000552.
2
Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts.实施林奇综合征通用筛查(IMPULSS):一项多中心研究方案,旨在确定在不同组织环境中实施、调整和维持基因组医学项目的策略。
BMC Health Serv Res. 2018 Oct 30;18(1):824. doi: 10.1186/s12913-018-3636-2.
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Quality of life following prophylactic gynecological surgery: experiences of female Lynch mutation carriers.
预防性妇科手术后的生活质量:林奇突变女性携带者的经历
Fam Cancer. 2018 Jan;17(1):53-61. doi: 10.1007/s10689-017-9997-6.
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Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine.基于二代测序的个性化癌症科学与医学通路分析的实践要点。
Oncotarget. 2016 Aug 9;7(32):52493-52516. doi: 10.18632/oncotarget.9370.
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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.靶向DNA测序检测家族性非髓样甲状腺癌中与易感性相关的突变。
Sci Rep. 2015 Nov 4;5:16129. doi: 10.1038/srep16129.
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Decisions about prophylactic gynecologic surgery: a qualitative study of the experience of female Lynch syndrome mutation carriers.关于预防性妇科手术的决策:对林奇综合征女性突变携带者经历的定性研究
Hered Cancer Clin Pract. 2015 Mar 19;13(1):10. doi: 10.1186/s13053-015-0031-4. eCollection 2015.