• J. Intern. Med. · Nov 2013

    Review

    Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci.

    • A N A Monteiro and M L Freedman.
    • Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
    • J. Intern. Med. 2013 Nov 1; 274 (5): 414424414-24.

    AbstractIn 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.© 2013 The Association for the Publication of the Journal of Internal Medicine.

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