Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes

被引:65
作者
Shen, Tony [1 ,2 ]
Pajaro-Van de Stadt, Stefan Hans [1 ]
Yeat, Nai Chien [1 ,2 ]
Lin, Jimmy C. -H. [1 ]
机构
[1] Rare Genom Inst, Bethesda, MD 20814 USA
[2] Washington Univ, Sch Med, St Louis, MO USA
关键词
ACUTE MYELOID-LEUKEMIA; SEVERE INTELLECTUAL DISABILITY; FAMILIAL BREAST-CANCER; LUNG-CANCER; MENDELIAN DISORDERS; COLORECTAL CANCERS; PROSTATE-CANCER; HIGH-THROUGHPUT; THYROID-CANCER; GENE;
D O I
10.3389/fgene.2015.00215
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This article will review recent impact of massively parallel next-generation sequencing (NGS) in our understanding and treatment of cancer. While whole exome sequencing (WES) remains popular and effective as a method of genetically profiling different cancers, advances in sequencing technology has enabled an increasing number of whole-genome based studies. Clinically, NGS has been used or is being developed for genetic screening, diagnostics, and clinical assessment. Though challenges remain, clinicians are in the early stages of using genetic data to make treatment decisions for cancer patients. As the integration of NGS in the study and treatment of cancer continues to mature, we believe that the field of cancer genomics will need to move toward more complete 100% genome sequencing. Current technologies and methods are largely limited to coding regions of the genome. A number of recent studies have demonstrated that mutations in non-coding regions may have direct tumorigenic effects or lead to genetic instability. Non-coding regions represent an important frontier in cancer genomics.
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页数:9
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