Next-generation sequencing applied to molecular diagnostics

被引：1

作者：

Natrajan, Rachael ^{[1
]}

Reis-Filho, Jorge S. ^{[1
]}

机构：

[1] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

来源：

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | 2011年 / 11卷 / 04期

关键词：

cancer; exome; fusion genes; genetics; massively parallel sequencing; mutations; third-generation sequencing; CELL LUNG-CANCER; TRANSCRIPTION FACTOR GENES; ESTROGEN-RECEPTOR-ALPHA; 1000 GENOMES PROJECT; SINGLE-MOLECULE; BREAST-CANCER; DNA METHYLATION; MICRORNA TRANSCRIPTOME; PROMOTER METHYLATION; ACQUIRED-RESISTANCE;

D O I：

10.1586/ERM.11.18

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Next-generation sequencing technologies have begun to revolutionize the field of cancer genetics through rapid and accurate assessment of a patient's DNA makeup with minimal cost. These technologies have already led to the realization of the inter- and intra-tumor genetic heterogeneity and the identification of novel mutations and chimeric genes, however, several challenges lie ahead. Given the low number of recurrent somatic genetic aberrations in common types of cancer, the identification of 'driver' genetic aberrations has proven challenging. Furthermore, implementation of next-generation sequencing and/or some of its derivatives into routine practice as diagnostic tests will require in-depth understanding of the pitfalls of these technologies and a great degree of bioinformatic expertise. This article focuses on the contribution of next-generation sequencing technologies to diagnosis and cancer prognostication and prediction.

引用

页码：425 / 444

页数：20

共 212 条

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