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Cancer Council Queensland Next Generation Research Fellow Dr Stephanie Portelli is developing more sensitive cancer risk detection tools by looking beyond genetic mutations alone to understand how genes are switched on and off.
Understanding the research
Dr Portelli is pioneering a new approach to cancer risk detection that goes beyond what current tools can see. Most existing methods look at two things: how genetic changes affect the structure and function of proteins, and whether those changes occur at evolutionarily important parts of the protein. While useful, even when combined these approaches don’t fully capture the complexity of how cancer develops.
The missing piece, Dr Portelli explains, is the control system that determines when and how genes are switched on or off. It’s a layer of biology that existing detection tools largely ignore.
“Current cancer risk detection tools don’t consider when and how genes are switched on or off to cause cancer,” Dr Portelli says. “Understanding this control system better could make predicting cancer risk much more accurate.”
Her research focuses on small genetic changes in regulatory genes—the genes that act as switches for other genes—and how disruptions to this system might contribute to cancer development. It’s an approach that shifts how we think about cancer risk, moving from a static picture of the genome to a dynamic understanding of how it behaves.
What this research means for patients
Dr Portelli’s project has three interconnected goals.
The first is to understand how mutations in regulatory genes might trigger cancer by turning other genes on or off unexpectedly. The second is to identify cancer ‘fingerprints’ in chemical tags on DNA called methylation markers, which are sections of DNA that don’t code for proteins but play a powerful role in determining which genes are active. The third is to use artificial intelligence to bring all of this information together, combining insights from multiple sources to more accurately predict childhood cancer risk.
Building on each other, these goals create a richer, more complete picture of cancer risk. More than any single approach could provide alone.
“My research aims to improve how we detect cancer by understanding how small genetic changes in certain regulatory genes might contribute to cancer,” she says.
By weaving this personalised genetic information, including insights from gene ‘control systems’, into risk prediction tools, doctors could be better equipped to identify children at risk earlier and tailor prevention and care to the individual.
That kind of precision could make an enormous difference for families navigating an uncertain diagnosis.
The bigger picture
Cancer development is more complex than genes being broken. The other part of the picture is genes being switched on when they shouldn’t be, or silenced when they should be active. It’s a hidden layer of complexity that’s been underrepresented in the tools clinicians use to assess risk, until now. It’s Dr Portelli’s research that’s aiming to change that.
Her work has the potential to allow for smarter, more personalised approaches to cancer detection. Ones that reflect true biological intricacy, how cancer begins, and provide clinicians with tools to act sooner and with greater confidence.
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