The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

8q24 癌症风险变异 rs6983267 与结直肠癌中的 MYC 存在长距离相互作用

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作者:Mark M Pomerantz, Nasim Ahmadiyeh, Li Jia, Paula Herman, Michael P Verzi, Harshavardhan Doddapaneni, Christine A Beckwith, Jennifer A Chan, Adam Hills, Matt Davis, Keluo Yao, Sarah M Kehoe, Heinz-Josef Lenz, Christopher A Haiman, Chunli Yan, Brian E Henderson, Baruch Frenkel, Jordi Barretina, Adam B

Abstract

An inherited variant on chromosome 8q24, rs6983267, is significantly associated with cancer pathogenesis. We present evidence that the region harboring this variant is a transcriptional enhancer, that the alleles of rs6983267 differentially bind transcription factor 7-like 2 (TCF7L2) and that the risk region physically interacts with the MYC proto-oncogene. These data provide strong support for a biological mechanism underlying this non-protein-coding risk variant.

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