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Aberrant Epigenetic Regulation in Breast Cancer

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Patho-Epigenetics of Disease

Abstract

Breast cancer is the leading cause of malignancy in women in the Western world. Inactivating mutations in tumor suppressor genes, gain-of-function mutations in oncogenes, and changes in DNA copy number result in the initiation, abnormal growth, resistance to drug treatment, and spread of breast tumors. In addition, epigenetic alterations across the genome play a critical role in carcinogenesis of the breast. Here we discuss key epigenetic events including hyper- and hypomethylation of CpG islands, chromatin remodeling, nuclear localization of genes, chromatin loops, and differential expression of small noncoding RNAs as they relate to the normal development of the breast and how their abnormal regulation leads to initiation, progression, and metastasis. This chapter not only highlights the role of epigenetics during normal breast development but also outlines basic epigenetic processes which are perturbed during the development of breast cancer. In addition, the role of epigenetics in classifying breast cancers, in determining prognosis, and as potential therapeutic targets will be discussed. As technologies for interrogating the entire genome improve, the importance of epigenetic dysregulation in breast cancer carcinogenesis is becoming more evident.

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Acknowledgments

This work was funded in part by the National Cancer Institute/National Institutes of Health grant (R01 CA134461) and the Ohio State University Comprehensive Cancer Center.

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Toland, A.E. (2012). Aberrant Epigenetic Regulation in Breast Cancer. In: Minarovits, J., Niller, H. (eds) Patho-Epigenetics of Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3345-3_5

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