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New Epigenetic Blood Test for Breast Cancer Detection and Monitoring

Garvan Institute of Medical Research Associate Professor

Clare Stirzaker

Project Description: Recurrent breast cancer often leads to metastasis and poorer outcomes for affected women. As such, it is important to identify relapse as soon as possible in those who have already completed their primary course of treatment. This study aims to develop a novel blood-based breast cancer test for all breast cancer patients to detect cancer metastasis and identify early signs of the cancer returning. 

Why This Work is Needed: While most women respond well to initial chemotherapy for breast cancer, the disease will return in about 17% of patients after primary treatment. Currently, there are no sensitive and reliable tests to detect relapse at an early stage, when treatment is likely to be most effective. 

Expected Outcomes: Outcomes from this study will result in a minimally invasive blood test, that can be used routinely by all breast cancer patients to monitor and detect recurrence earlier. Early detection will allow earlier treatment and superior outcomes for patients.  

Project Details  

A/Prof Clare Stirzaker, from the Garvan Institute of Medical Research, has identified a unique chemical signature of breast cancer DNA. The signature is an example of an epigenetic marker – a change in the way that cancer cells behave due to these special marks on the DNA. 

These chemical signatures are a feature of breast cancers and can be detected in small amounts in the blood. This means that the new blood test will be suitable for all breast cancer patients. In addition, the test will be simple, routine and minimally invasive, making it accessible. 

In the study, the team will first optimise their test, to ensure it is as sensitive and reliable as possible. Then, they will use the test on blood samples from patients in current clinical trials, to confirm that it can detect early recurrent breast cancer relapse. 

If effective, this blood test will enable detection of breast cancer relapse at an early time point, to improve the chances of successful treatment. In addition, the simple blood test will help women monitor their risk of relapse without invasive and expensive testing. 

Garvan Institute of Medical Research Associate Professor

Clare Stirzaker