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.
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Notes
- 1.
Refer to eviQ guidelines (https://www.eviq.org.au).
- 2.
Refer to eviQ guidelines for a flow chart describing IHC-guided genetic testing (https://www.eviq.org.au/additional-clinical-information-cancer-genetics/3185-ihc-guided-genetic-testing).
- 3.
Constitutional epimutations of MLH1, but not PMS2, have been described in Lynch syndrome. Constitutional epimutations of PMS2 are theoretically possible but may not occur or may not have been detected due to the presence of multiple PMS2 pseudogenes that make methylation analysis of this gene technically challenging.
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Hesson, L.B., Sloane, M.A., Pritchard, A.L. (2019). The Clinical Utility of Epigenetics: A Case Study. In: Hesson, L., Pritchard, A. (eds) Clinical Epigenetics. Springer, Singapore. https://doi.org/10.1007/978-981-13-8958-0_11
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