The complexity of epigenetic diseases

Ailbhe Jane Brazel, Douglas Vernimmen

Research output: Contribution to journalLiterature reviewpeer-review


Over the past thirty years a plethora of pathogenic mutations affecting enhancer regions and epigenetic regulators have been identified. Coupled with more recent genome wide association studies (GWAS) and epigenome wide association studies (EWAS) implicating major roles for regulatory mutations in disease, it is clear that epigenetic mechanisms represent important biomarkers for disease development and perhaps even therapeutic targets. Here, we will discuss the diversity of disease causing mutations in enhancers and epigenetic regulators, with a particular focus on cancer.

Original languageEnglish
Pages (from-to)333-344
JournalThe Journal of Pathology
Issue number2
Early online date17 Nov 2015
Publication statusPublished - Jan 2016


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