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

Nat Genet. 2009 Aug;41(8):882-4. doi: 10.1038/ng.403. Epub 2009 Jun 28.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Line, Tumor
  • Chromosomes, Human, Pair 8 / genetics*
  • Colorectal Neoplasms / genetics*
  • Enhancer Elements, Genetic / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Binding
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-myc / genetics*
  • TCF Transcription Factors / metabolism
  • Transcription Factor 7-Like 2 Protein

Substances

  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-myc
  • TCF Transcription Factors
  • TCF7L2 protein, human
  • Transcription Factor 7-Like 2 Protein