Review
Copyright ©2013 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Oct 28, 2013; 19(40): 6784-6793
Published online Oct 28, 2013. doi: 10.3748/wjg.v19.i40.6784
Clinical applications of next-generation sequencing in colorectal cancers
Tae-Min Kim, Sug-Hyung Lee, Yeun-Jun Chung
Tae-Min Kim, Sug-Hyung Lee, Yeun-Jun Chung, MRC Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, South Korea
Yeun-Jun Chung, Sug-Hyung Lee, Integrated Research Center for Genome Polymorphism, Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 137-701, South Korea
Sug-Hyung Lee, Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 137-701, South Korea
Author contributions: Kim TM and Chung YJ collected the materials and wrote the manuscript; Lee SH commented on the contents; Chung YJ supervised the manuscript.
Supported by Cancer Evolution Research Center (2012R1A5A2047939), South Korea
Correspondence to: Yeun-Jun Chung, MD, PhD, Professor, Director, Integrated Research Center for Genome Polymorphism, Department of Microbiology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, South Korea. yejun@catholic.ac.kr
Telephone: +82-2-22587343 Fax: +82-2-5370572
Received: April 25, 2013
Revised: July 22, 2013
Accepted: August 20, 2013
Published online: October 28, 2013
Processing time: 201 Days and 14.4 Hours
Abstract

Like other solid tumors, colorectal cancer (CRC) is a genomic disorder in which various types of genomic alterations, such as point mutations, genomic rearrangements, gene fusions, or chromosomal copy number alterations, can contribute to the initiation and progression of the disease. The advent of a new DNA sequencing technology known as next-generation sequencing (NGS) has revolutionized the speed and throughput of cataloguing such cancer-related genomic alterations. Now the challenge is how to exploit this advanced technology to better understand the underlying molecular mechanism of colorectal carcinogenesis and to identify clinically relevant genetic biomarkers for diagnosis and personalized therapeutics. In this review, we will introduce NGS-based cancer genomics studies focusing on those of CRC, including a recent large-scale report from the Cancer Genome Atlas. We will mainly discuss how NGS-based exome-, whole genome- and methylome-sequencing have extended our understanding of colorectal carcinogenesis. We will also introduce the unique genomic features of CRC discovered by NGS technologies, such as the relationship with bacterial pathogens and the massive genomic rearrangements of chromothripsis. Finally, we will discuss the necessary steps prior to development of a clinical application of NGS-related findings for the advanced management of patients with CRC.

Keywords: Next-generation sequencing; Cancer genomics; Colorectal cancers; Personalized medicine; The cancer genome atlas

Core tip: Next-generation sequencing (NGS)-driven genomic analyses are facilitating the genomic dissection of various types of human cancers, including colorectal cancer (CRC). This review contains an up-to-date summary of recent NGS-based CRC studies and an overview of how these efforts have advanced our understanding of colorectal carcinogenesis with novel biomarkers for genome-based cancer diagnosis and personalized cancer therapeutics.