Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci
Article first published online: 16 OCT 2013
© 2013 The Association for the Publication of the Journal of Internal Medicine
Journal of Internal Medicine
Volume 274, Issue 5, pages 414–424, November 2013
How to Cite
Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA; and The Eli and Edythe L. Broad Institute of MIT and Harvard, Cambridge, and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci (Review). J Intern Med 2013; 274: 414–424., .
- Issue published online: 16 OCT 2013
- Article first published online: 16 OCT 2013
- National Institutes of Health (NIH). Grant Numbers: 1U19CA148112, 1U19CA148537, 1U19CA148065
- cancer predisposition;
- eQTL ;
In the last few years, genome-wide association studies (GWASs) have identified hundreds of predisposition loci for several types of human cancers. Recent progress has been made in determining the underlying mechanisms through which different single-nucleotide polymorphisms (SNPs) affect predisposition to cancer. Although there has been much debate about the clinical utility of GWASs, less attention has been paid to how GWASs and post-GWASs functional analysis have contributed to understanding the aetiology of cancer. Most common variants associated with cancer risk are localized in nonprotein-coding regions highlighting transcriptional regulation as a common theme in the mechanism of cancer predisposition. Here, we outline strategies to functionally dissect predisposition loci and discuss their limitations as well as challenges for future studies.