Aberrations of gene expression caused by genetic or epigenetic dysregulation are key features in the pathogenesis of breast cancer, and can be responsible for resistance to treatment. Techniques used to investigate aberrant gene expression focus on the protein-coding regions, which only represent 2% of the entire human genome, but such techniques do not directly assess the regulatory networks that are responsible for the transcription of genes. Non-coding DNA can be viewed as genomic dark matter-it constitutes the vast majority of our DNA but its functions are not completely understood. Non-coding DNA includes functional elements such as promoters (DNA regions that control the expression of proximal genes) and regulatory elements more than 5 kb from transcription start site, such as enhancers (regulatory regions that can control gene expression at any distance).
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