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针对普通癌症患者的下一代测序技术。

Next-generation sequencing for the general cancer patient.

作者信息

Avila Monica, Meric-Bernstam Funda

机构信息

The University of Texas MD Anderson Cancer Center, Houston, Texas.

出版信息

Clin Adv Hematol Oncol. 2019 Aug;17(8):447-454.

Abstract

Next-generation sequencing is a novel method of DNA sequencing that has become a cornerstone of precision oncology. This sequencing method detects differences in specific DNA sequences between a sample and a reference genome or matched normal DNA. In addition to single-nucleotide variants, other insertions, deletions, copy number changes, and fusions may be drivers of cancer growth, and thus represent therapeutic opportunities. As a result, genomic characterization has been increasingly used to guide treatment decisions, especially in patients with advanced disease. This review discusses the basic technologies involved in next-generation sequencing, the applications of this method, and limitations in the clinical realm.

摘要

下一代测序是一种新型的DNA测序方法,已成为精准肿瘤学的基石。这种测序方法可检测样本与参考基因组或匹配的正常DNA之间特定DNA序列的差异。除了单核苷酸变异外,其他插入、缺失、拷贝数变化和融合可能是癌症生长的驱动因素,因此代表着治疗机会。因此,基因组特征分析越来越多地用于指导治疗决策,尤其是在晚期疾病患者中。本文综述了下一代测序所涉及的基本技术、该方法的应用以及临床领域的局限性。

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