Dysregulation of Cis-Regulatory Elements in Cancer

Cis-regulatory elements (CREs) are DNA sequences in the genome that regulate gene expression through their interaction with transcription factors and the transcription pre-initiation complex. These elements control the expression of genes that define the identity and function of each individual cell. Precisely coordinated changes in the cis-regulation of gene expression are now known to play a crucial role in normal organismal development. Changes in cis-regulation have now also been implicated in many human diseases, particularly in cancer. The aim of this chapter is to highlight the clinical potential of recent research that has identified specific roles of the dysregulation of CREs in cancer. This chapter will begin by giving an overview of the function of key CREs while providing examples of how dysregulation of these elements can lead to cancer development. As somatic mutations are a hallmark of cancers, we will focus on the role of somatic changes in genomic DNA that lead to alterations in the control of expression in key oncogenes. Finally, this chapter will highlight some potential clinical utility of recent research in the field and emerging therapies that can be used to target dysregulation in CREs.