title: The complexity of epigenetic diseases.
abstract: Over the past 30 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 discuss the diversity of disease-causing mutations in enhancers and epigenetic regulators, with a particular focus on cancer.
authors.affiliation: The Roslin Institute, Developmental Biology Division, University of Edinburgh, Easter Bush, Midlothian, UK.
authors.forename: Ailbhe Jane
authors.initials: AJ
authors.lastname: Brazel
authors.affiliation: The Roslin Institute, Developmental Biology Division, University of Edinburgh, Easter Bush, Midlothian, UK.
authors.forename: Douglas
authors.initials: D
authors.lastname: Vernimmen
mesh_terms: D000818:Animals; D004273:DNA, Neoplasm / Q000235:genetics; D004742:Enhancer Elements, Genetic / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics*; D057890:Epigenomics / Q000379:methods; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm
keywords: cancer; chromatin; enhancer; epigenetics; leukaemia; mutations