期刊
JOURNAL OF PATHOLOGY
卷 238, 期 2, 页码 333-344出版社
WILEY
DOI: 10.1002/path.4647
关键词
enhancer; epigenetics; chromatin; cancer; leukaemia; mutations
资金
- 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
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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