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©2014 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Apr 21, 2014; 20(15): 4167-4177
Published online Apr 21, 2014. doi: 10.3748/wjg.v20.i15.4167
Published online Apr 21, 2014. doi: 10.3748/wjg.v20.i15.4167
Genetic variations in colorectal cancer risk and clinical outcome
Kejin Zhang, Sushmita Mukherjee, Fenil Patel, Hushan Yang, Division of Population Science, Department of Medical Oncology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, United States
Kejin Zhang, College of Life Science, Northwest University, Xi'an 710069, Shaanxi Province, China
Jesse Civan, Division of Gastroenterology and Hepatology, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, United States
Author contributions: All the authors were involved in literature review and manuscript writing.
Supported by A start-up grant from Thomas Jefferson University; and National Cancer Institute Grant, CA162201
Correspondence to: Hushan Yang, PhD, Division of Population Science, Department of Medical Oncology, Kimmel Cancer Center, Thomas Jefferson University, 111 S 11th St, Philadelphia, PA 19107, United States. hushan.yang@jefferson.edu
Telephone: +1- 215-5036521 Fax: +1-215-5039506
Received: September 28, 2013
Revised: January 8, 2014
Accepted: March 6, 2014
Published online: April 21, 2014
Revised: January 8, 2014
Accepted: March 6, 2014
Published online: April 21, 2014
Core Tip
Core tip: This review covers the recent advances in genome-wide association studies (GWASs) that have identified genetic variants associated with an altered risk of colorectal cancer (CRC). In this review, we summarize single nucleotide polymorphisms (SNPs) located in or near genes that play crucial roles in signal transduction pathways, genome stability, cell cycle control, and gene expression and regulation. SNPs that are found in gene desert regions are also discussed. The relationship between genetic variations and clinical outcomes in CRC is presented from epidemiological studies that have identified SNPs with methods other than GWASs.