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Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.


ABSTRACT: Recent genome-wide association studies have identified multiple regions at 8q24 that confer susceptibility to many cancers. In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resides within a TCF4 binding site at the MYC-335 enhancer, with the risk allele G having a stronger binding capacity and Wnt responsiveness. Here, we searched for other potential functional variants within MYC-335. Genetic variation within MYC-335 was determined in samples from individuals of European, African, and Asian descent, with emphasis on variants in putative transcription factor binding sites. A 2-bp GA deletion rs67491583 was found to affect a growth factor independent (GFI) binding site and was present only in individuals with African ancestry. Chromatin immunop

SUBMITTER: Tuupanen S 

PROVIDER: S-EPMC3770308 | biostudies-literature | 2012 Jan-Feb

REPOSITORIES: biostudies-literature