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解读癌症基因图谱的基本原理与技术

Basic principles and technologies for deciphering the genetic map of cancer.

作者信息

Voidonikolas Georgios, Kreml Stephanie S, Chen Changyi, Fisher William E, Brunicardi F Charles, Gibbs Richard A, Gingras Marie-Claude

机构信息

Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

World J Surg. 2009 Apr;33(4):615-29. doi: 10.1007/s00268-008-9851-y.

Abstract

The progress achieved in the field of genomics in recent years is leading medicine to adopt a personalized model in which the knowledge of individual DNA alterations will allow a targeted approach to cancer. Using pancreatic cancer as a model, we discuss herein the fundamentals that need to be considered for the high throughput and global identification of mutations. These include patient-related issues, sample collection, DNA isolation, gene selection, primer design, and sequencing techniques. We also describe the possible applications of the discovery of DNA changes to the approach of this disease and cite preliminary efforts where the knowledge has been translated into the clinical or preclinical setting.

摘要

近年来基因组学领域取得的进展正引领医学采用个性化模式,在这种模式下,对个体DNA改变的了解将有助于对癌症采取靶向治疗方法。本文以胰腺癌为例,讨论了在高通量和全面鉴定突变时需要考虑的基本要素。这些要素包括与患者相关的问题、样本采集、DNA分离、基因选择、引物设计和测序技术。我们还描述了DNA变化的发现对该疾病治疗方法的可能应用,并列举了一些已将相关知识转化到临床或临床前环境的初步成果。

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