Translating epigenetic biomarkers into a pan-cancer diagnostic

Project summary

Alterations in DNA methylation are a common phenotype in cancer and provide novel options for diagnosis and classification. We have previously performed whole-genome capture analysis on breast cancer samples and identified novel DNA methylation signatures which can be used to detect this disease, as well as differentiate the subtype of breast cancer a patient has, and potentially predict response to cancer therapies.  Critically, these regions are unmethylated in the DNA of peripheral mononuclear blood cells (PMBC) which enables applications that profile fragments of tumour DNA found in the blood of patients with cancer without interference due to contamination of genomic DNA from white blood cells. 

Over the past 18 months, we have subsequently created a novel, and cost-effective multiplex assay which can interrogate meth regions simultaneously, and using this new screening test have recently generated data which shows that these breast cancer DNA methylation signatures may also have utility in the diagnosis and classification of other types of cancer.  Given this, the overall aim of this project is to expand the scope of our breast cancer biomarkers and assess their clinical utility in the detection and diagnosis of other cancers to design of a universal blood-based pan-cancer diagnostic assay for early detection of disease.

This interdisciplinary project will provide an opportunity for students to acquire diverse skills in oncology, molecular biology, bioinformatics, and next-generation sequencing.