Journal
JOURNAL OF PATHOLOGY
Volume 238, Issue 2, Pages 333-344Publisher
WILEY
DOI: 10.1002/path.4647
Keywords
enhancer; epigenetics; chromatin; cancer; leukaemia; mutations
Funding
- British Society for Haematology (BSH)
- Roslin Foundation
- University of Edinburgh
- Biotechnology and Biological Sciences Research Council (BBSRC)
- BBSRC [BBS/E/D/20221657] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BBS/E/D/20221657] Funding Source: researchfish
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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. (c) 2015 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
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