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


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
Number of pages19
ISBN (Electronic)9789811389580
ISBN (Print)9789811389573
Publication statusPublished - 1 Sept 2019

Publication series

NameClinical Epigenetics


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