The Clinical Utility of Epigenetics: A Case Study

Luke B. Hesson, Mathew A. Sloane, Antonia L. Pritchard

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

In a clinical pathology setting, epigenetic testing is rare and underutilised. In this chapter, we describe a patient with early-onset colorectal cancer caused by a constitutional epimutation. This case study emphasises the importance of epigenetic testing when standard genetic testing has failed to identify a cause for disease predisposition.
Original languageEnglish
Title of host publicationClinical Epigenetics
PublisherSpringer Nature
Pages247-265
Number of pages19
ISBN (Electronic)9789811389580
ISBN (Print)9789811389573
DOIs
Publication statusPublished - 1 Sep 2019

Publication series

NameClinical Epigenetics

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Hesson, L. B., Sloane, M. A., & Pritchard, A. L. (2019). The Clinical Utility of Epigenetics: A Case Study. In Clinical Epigenetics (pp. 247-265). (Clinical Epigenetics). Springer Nature. https://doi.org/10.1007/978-981-13-8958-0_11