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Epigenetic Epidemiology for Cancer Risk: Harnessing Germline Epigenetic Variation

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Cancer Epigenetics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 863))

Abstract

Genetic epidemiology aims to use the natural variation in the genome, namely single nucleotide polymorphisms and copy number variants to look for associations between particular genotypes and disease risk or prognosis. Recent work is now aiming to look further into the genome at the natural variation present in the epigenome, in DNA methylation as well as histone modifications, which both regulate gene expression. Epigenetic epidemiology aims to address the same questions about disease risk and prognosis using the normal epigenetic variability. Some examples of rare “epimutations” that can be detected in peripheral blood DNA have been reported in the genes MLH1, MSH2 and IGF2. Other studies have reported increased cancer risk with skewed distributions of the normal pattern in cancer cases compared to controls, showing the promise of harnessing the normal variation in the epigenome. However, some confounding factors need to be considered including the relationship between the epigenome and increasing age and tissue heterogeneity. Future studies using genome-wide approaches will likely find many more novel epigenetic biomarkers for cancer risk and prognosis.

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Acknowledgements

This work was supported by Breast Cancer Campaign UK. JF is a Breast Cancer Campaign Fellow.

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Authors and Affiliations

  1. Division of Surgery and Cancer, Imperial College, London, UK

    Kevin Brennan & James M. Flanagan

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  1. Kevin Brennan
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  2. James M. Flanagan
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Correspondence to James M. Flanagan .

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  1. School of Medicine, Saba University, Saba, Dutch Antilles

    Ramona G. Dumitrescu

  2. National Institutes of Health (NIH), Div. Cancer Control &, National Cancer Institute, Executive Blvd. 6130Suite 5100, Bethesda, 20892-7324, Maryland, USA

    Mukesh Verma

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Brennan, K., Flanagan, J.M. (2012). Epigenetic Epidemiology for Cancer Risk: Harnessing Germline Epigenetic Variation. In: Dumitrescu, R., Verma, M. (eds) Cancer Epigenetics. Methods in Molecular Biology, vol 863. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-612-8_27

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  • DOI: https://doi.org/10.1007/978-1-61779-612-8_27

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