Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline
Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline
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DOI：
10.1007/s10897-011-9465-7
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发表时间：
2012-08-01
影响因子：
1.9
通讯作者：
Senter, Leigha
中科院分区：
文献类型：
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作者：
Weissman, Scott M.;Burt, Randall;Senter, Leigha
识别患有林奇综合征（LS）的个体涉及复杂的诊断工作，包括详细的家族史以及各种遗传和免疫组织化学测试的组合。美国国家遗传咨询师协会（NSGC）和美洲遗传性结直肠癌合作小组（CGA-ICC）共同发布了这一临床实践测试指南，用于评估LS。本实践指南的目的是为LS提供指导和测试算法，以及何时提供测试的建议。本指南并不能取代遗传学专业人士的咨询。本指南包括支持这一点的解释和背景数据摘要。虽然本指南无意作为对一次总付的审查，但它包括对一次总付背景资料的讨论，并引用了一些关键出版物，这些出版物应加以审查，以更深入地了解一次总付。这些指南适用于遗传咨询师、遗传学家、胃肠病学家、外科医生、内科肿瘤学家、产科医生和妇科医生、护士和其他评估LS患者的医疗保健提供者。
Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.