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Australian researchers advance genetic tools to better predict inherited cancer risk

Sydney, Apr 29 (UNI) Medical researchers have developed advanced computational tools that significantly improve the accuracy of genetic testing for inherited cancer risk, an Australian government research institute has revealed.
The accuracy of genetic testing has been significantly improved particularly in people with Li-Fraumeni Syndrome, a rare, inherited cancer predisposition syndrome caused by faults in the TP53 gene, which significantly increases the risk of developing multiple types of cancer, according to a news release of the QIMR Berghofer (formerly the Queensland Institute of Medical Research) on Monday.
The study by researchers at QIMR Berghofer, collaborating with Spain's Hospital Clinico San Carlos and US--based Ambry Genetics, shows how integrating new computer-based predictions with existing genetic models enhances the classification of genetic variants, helping distinguish between harmless mutations and those likely to cause cancer.
These improved methods can guide more accurate diagnoses and enable targeted clinical management, such as early screening and preventative treatment, said the study published in the American Journal of Human Genetics.
"Li-Fraumeni Syndrome is rare, but for the people affected it's extremely important to give them certainty," said lead author Nitsan Rotenberg from QIMR Berghofer.
Accurately identifying harmful variants allows individuals to receive intensive monitoring and early interventions, Rotenberg said.
Their approach includes using tools that predict structural changes in proteins caused by gene variants and assess how these changes affect protein stability. This combined method reduces uncertainty around TP53 variants, crucial for high-risk families where the chance of developing cancer by age 60 can be as high as 95 percent, said the research team led by QIMR Berghofer Prof Amanda Spurdle.
Using protein structure predictions enhances the ability to interpret the growing number of unclassified variants, ultimately improving care and informing global clinical guidelines, Spurdle said.
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