Many SNPs associated with human disease are located in non-coding regions of the genome. A new study shows that SNPs associated with breast cancer risk are located in enhancer regions and alter binding affinity for the pioneer factor FOXA1.
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Meyer, K., Carroll, J. FOXA1 and breast cancer risk. Nat Genet 44, 1176–1177 (2012). https://doi.org/10.1038/ng.2449
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DOI: https://doi.org/10.1038/ng.2449