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Cancer Res. 2013 Jul 15;73(14):4180-4. doi: 10.1158/0008-5472.CAN-13-0789. Epub 2013 Jul 5.

Lessons from functional analysis of genome-wide association studies.

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Department of Biosciences and Nutrition, SciLife Center, Karolinska Institutet, Clinical Research Center, Karolinska University Hospital, Stockholm, Sweden.


Most cancer-associated single-nucleotide polymorphisms (SNP) identified using genome-wide association studies are located outside of protein-coding regions, and their significance and mode of action have been a source of continuing debate. One proposed mechanism of action of the SNPs is that they would affect the activity of enhancer elements regulating critical target genes. In this review, we summarize recent results that substantiate this model. These studies have identified a cancer-specific enhancer element at the 8q24 gene desert that controls the expression of the MYC oncogene. We further discuss implications of the observed difference between normal growth control and cancer for drug development, and the inherent features of genome-wide association studies that may specifically lead to identification of disease-specific regulatory elements.

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