分子诊断检测在家族性腺瘤性息肉病和遗传性非息肉病性结直肠癌家族中的作用。
Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families.
作者信息
Rabelo R, Foulkes W, Gordon P H, Wong N, Yuan Z Q, MacNamara E, Chong G, Pinsky L, Lasko D
机构信息
Department of Medical Biochemistry, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada.
出版信息
Dis Colon Rectum. 2001 Mar;44(3):437-46. doi: 10.1007/BF02234746.
PURPOSE
Genetic tests are available for familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. The goal of this review was to develop an algorithm for application of molecular diagnostic techniques to the management of hereditary colorectal carcinoma and to familiarize the clinician with the vocabulary of molecular genetic testing for hereditary colorectal carcinoma.
METHODS
Studies examining the clinical use of genetic testing for hereditary colorectal carcinoma syndromes are evaluated. Recent advances in molecular genetic technology are reviewed, and clinical management as practiced here and elsewhere is outlined.
RESULTS
This review is a guide to the most reliable molecular diagnostic techniques. Three key questions are answered: who, when, and how to test.
CONCLUSIONS
When integrated with existing testing protocols for colorectal carcinoma and when applied with appropriate caveats, particularly regarding interpretation of negative results, genetic testing can result in improved management of patients and families.
目的
可对家族性腺瘤性息肉病和遗传性非息肉病性结直肠癌进行基因检测。本综述的目的是制定一种算法，用于将分子诊断技术应用于遗传性结直肠癌的管理，并使临床医生熟悉遗传性结直肠癌分子基因检测的词汇。
方法
评估了有关遗传性结直肠癌综合征基因检测临床应用的研究。回顾了分子遗传技术的最新进展，并概述了此处及其他地方的临床管理情况。
结果
本综述是最可靠分子诊断技术的指南。回答了三个关键问题：检测对象、检测时间和检测方法。
结论
当与现有的结直肠癌检测方案相结合，并在有适当注意事项（特别是关于阴性结果的解释）的情况下应用时，基因检测可改善患者及其家庭的管理。
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