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[何时将患者转诊进行肿瘤遗传学咨询?]

[When to refer patients for oncogenetic counseling?].

作者信息

Viassolo Valeria, Chappuis Pierre O

出版信息

Rev Med Suisse. 2016 May 18;12(519):966, 968-72.

PMID:27424422
Abstract

Approximately 5 to 10% of all malignant tumors can be attributed to highly penetrant cancer predisposition genes. More than 100 of these genes have been identified. Taking into account the complexity and the various implications of predictive oncology, and in accordance with the current regulation, every constitutional molecular analysis must be performed within the framework of a genetic counseling. Besides the implementation of the next generation sequencing technology in clinical laboratory, family history remains a key information to identify hereditary cancer syndromes and to propose genetic counseling. New challenge areas for clinicians involved in predictive oncology are also associated with this technical revolution.

摘要

所有恶性肿瘤中约5%至10%可归因于高外显率的癌症易感基因。目前已鉴定出100多种此类基因。考虑到预测性肿瘤学的复杂性和各种影响,并根据现行规定,每次体质分子分析都必须在遗传咨询的框架内进行。除了在临床实验室应用下一代测序技术外,家族史仍然是识别遗传性癌症综合征和提供遗传咨询的关键信息。参与预测性肿瘤学的临床医生面临的新挑战领域也与这一技术革命相关。

相似文献

1
[When to refer patients for oncogenetic counseling?].[何时将患者转诊进行肿瘤遗传学咨询?]
Rev Med Suisse. 2016 May 18;12(519):966, 968-72.
2
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性基因检测
J Clin Oncol. 2003 Jun 15;21(12):2397-406. doi: 10.1200/JCO.2003.03.189. Epub 2003 Apr 11.
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[Usefulness of the oncogenetic molecular counselling in adults whith familial cancer].[肿瘤发生分子咨询在成年家族性癌症患者中的应用价值]
Rev Med Inst Mex Seguro Soc. 2016 May-Jun;54(3):364-74.
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Genetic testing: when to test, when to refer.基因检测:何时进行检测,何时进行转诊。
Am Fam Physician. 2005 Jul 1;72(1):33-4.
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The genetic testing process: how much counseling is needed?基因检测过程:需要多少咨询?
J Clin Oncol. 2000 Nov 1;18(21 Suppl):60S-4S.
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Germline BRCA1/2 testing practices in ovarian cancer: Current state and opportunities for new directions.BRCA1/2 种系检测在卵巢癌中的应用:现状与新方向的机遇。
Gynecol Oncol. 2016 Jan;140(1):90-4. doi: 10.1016/j.ygyno.2015.10.010. Epub 2015 Oct 22.
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Testing for cancer susceptibility genes in children.儿童癌症易感基因检测。
Adv Pediatr. 1999;46:1-40.
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Supporting patients through genetic screening for cancer risk.通过癌症风险基因筛查为患者提供支持。
Medsurg Nurs. 2004 Aug;13(4):233-46.
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Management of familial cancer: sequencing, surveillance and society.家族性癌症的管理:测序、监测和社会。
Nat Rev Clin Oncol. 2014 Dec;11(12):723-31. doi: 10.1038/nrclinonc.2014.169. Epub 2014 Oct 14.
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Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study.遗传性癌症检测人群对下一代测序的可接受性及信息需求:一项定性研究
J Genet Couns. 2016 Apr;25(2):218-27. doi: 10.1007/s10897-015-9861-5. Epub 2015 Aug 12.

引用本文的文献

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Issues associated with a hereditary risk of cancer: Knowledge, attitudes and practices of nurses in oncology settings.与癌症遗传风险相关的问题:肿瘤科室护士的知识、态度和行为
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