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

MM Pomerantz, N Ahmadiyeh, L Jia, P Herman… - Nature …, 2009 - nature.com
MM Pomerantz, N Ahmadiyeh, L Jia, P Herman, MP Verzi, H Doddapaneni, CA Beckwith…
Nature genetics, 2009nature.com
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.
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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