Australian researchers say they have moved a step closer to understanding why some children develop cancer, after identifying key DNA changes that can indicate a higher risk of the disease. The findings are prompting renewed calls for broader genetic testing, with experts warning current guidelines may fail to identify some children who carry these inherited risks.
Ryder is among the children doing well after years of treatment, following an aggressive brain tumour diagnosis when he was just 10 months old. For his mother, Kelly, the news was frightening but not entirely unexpected given her family history of brain tumours. “I always thought that it was going to happen to me,” she said.
Kelly’s sister had died from a brain tumour decades earlier, at a time when families often had no way to find an underlying cause. In Ryder’s case, doctors have now identified a genetic reason. “It was quite a shock when we found out that there was the genetic link to it, and unfortunately I’d passed it down to Ryder,” Kelly said.
The research, led by the Children’s Cancer Institute, examined about 500 young cancer patients and found around one in six were born with a genetic change linked to the disease. Dr Noemi Fuentes-Bolanos explained what that means at the DNA level: “It’s a change on the DNA that actually makes the gene not work properly,” she said. She said the work is also reshaping what specialists think they can explain through genetics. “We are learning that we have an answer for their cancer in a bigger proportion than we thought.”
The team says the discovery strengthens the case for expanding genetic testing beyond today’s criteria, because relying only on standard clinical guidelines could leave many families without crucial information. “If we initially would have followed all the clinical criteria, the conventional clinical criteria, we would have missed half of them,” Fuentes-Bolanos said.
Ryder’s father, Alan, believes the impact could be profound for other families navigating a devastating diagnosis. “To be able to pinpoint certain cancers and genetic links in the future will be amazing,” he said.
