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

• Autores: A. N. A. Monteiro, M.L. Freedman
• Localización: Journal of Internal Medicine, ISSN-e 1365-2796, Vol. 274, Nº. 5, 2013, págs. 414-424
• Idioma: inglés
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• Resumen

  • 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.