Abstract
Genome-wide association studies (GWAS) have successfully identified common polymorphisms that are strongly associated with many traits, including cancer. A gene desert located on chromosome 8q24 is associated with multiple cancer types. One of the closest genes is the MYC proto-oncogene. Investigations are now turning toward a mechanistic understanding of these (and other) risk loci. Recent studies demonstrate that the 8q24 loci are enhancers and that they physically interact with MYC. A still unresolved issue is the absence of a consistent association between genotype status at the risk loci and steady-state MYC expression levels in adult human tissues. Clarifying the function of the 8q24 variants and their link to MYC regulation by further in vivo and in vitro functional studies will allow a deeper understanding of the mechanisms underlying human cancer development.