A case study developed by Illumina has highlighted a TAGC funded project led by collaborators at the University of Melbourne and Peter MacCallum Cancer Centre developing a liquid biopsy test for cancer of unknown primary.

Cancer of unknown primary, or CUP, is diagnosed when cancer cells are discovered that are not typical of cancer cells usually found in that region of the body: They’ve spread from somewhere else. “There’s nothing to associate them with,” says Richard Tothill, an associate professor at the University of Melbourne and head of its Rare Disease Oncogenomics group. He explains that this general lack of awareness translates to less advocacy, funding, research, care, and support. “The patients fall through the gaps as well, in terms of medical care. The clinical problem is that we need to know where primary cancer arose in the body to direct an effective treatment.” In other words, breast cancer patients respond better to breast cancer drugs, so it’s important to resolve a cancer diagnosis.

Development of the cell-free DNA CUP test is supported by The Advanced Genomics Collaboration (TAGC), a partnership between the University of Melbourne and Illumina. Invest Victoria, Illumina, and the University of Melbourne established TAGC to advance biomedical research translation, expand access to state-of-the-art genomic testing and treatments, and create the necessary infrastructure and jobs. It is underpinned by three platforms in clinical genomics, bioinformatics, and health economics.

Read more on the Illumina website.

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