Abstract
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.
Highlights
Cancer, in its many forms, accounted for 8.2 million deaths in 2012 (GLOBOCAN, 2012)
Compared to whole genome sequencing (WGS), exome sequencing covers only the 1% of the genome that is translated into protein, greatly reducing the technical burden of data collection and analysis
Ley et al piloted the use of next-generation sequencing (NGS) to study the exomes of 140 samples of human acute myeloid leukemia (AML) cells in 2003, identifying 6 previously described and 7 undescribed
Summary
In its many forms, accounted for 8.2 million deaths in 2012 (GLOBOCAN, 2012). The rapid development of DNA sequencing technologies has driven a revolution in our understanding of this highly complex and diverse group of diseases (Devita and Rosenberg, 2012). This article summarizes the history of massively parallel next-generation sequencing (NGS) in the context of cancer genomics and reviews recent research and clinical applications. We highlight the importance and potential of complete or 100% genome sequencing, i.e., the ability to sequence highly repetitive non-coding sequences beyond the reach of current NGS technologies
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