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Lessons from postgenome‐wide association studies: functional analysis of cancer predisposition loci
Author(s) -
Monteiro A. N. A.,
Freedman M. L.
Publication year - 2013
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/joim.12085
Subject(s) - genome wide association study , genetic predisposition , genetic association , single nucleotide polymorphism , snp , genetics , medicine , cancer , disease , bioinformatics , biology , genotype , gene , pathology
In the last few years, genome‐wide association studies ( GWAS s) 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 ( SNP s) affect predisposition to cancer. Although there has been much debate about the clinical utility of GWAS s, less attention has been paid to how GWAS s and post‐ GWAS s 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.