Cancer predisposition and screening

This project will establish a pilot germline screening program for all children with cancer in NSW, at the time of their diagnosis, supported by the existing national Zero Childhood Cancer network and analysis piplelines.   


With Whole Genome Sequencing driving the genomics revolution, studies show that more than 10% of child cancer patients (significantly higher in certain cancers), harbor at least one germline mutation in a cancer predisposition gene. However, with no routine screening available, the prevalence of cancer predispostion in children diagnosed with cancer remains poorly understood.


This pilot of a statewide screening program aims to fill this gap, driving an improved understanding of the role of genetic predisposition in child cancer. By identifying new genomic variants as targets for future novel therapies and identifying families who are at risk of developing cancer, there is an unprecedented opportunity to achieve prevention of cancer through access to appropriate management of cancer risk, surveillance and treatment.

Jenny Byrne.png

Head, Children's Cancer Research Unit, Sydney Children's Hospitals Network

Project lead
Prof Jennifer Byrne

Personalised Medicine Program Leader, Children's Cancer Institute, Zero Childhood Cancer

Project lead
Ms Vanessa Tyrrell
Tracey OBrien.png

Director, Kids Cancer Centre, Sydney Children's Hospitals Network

Project lead
A/Prof Tracey O'Brien

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