Emerging approaches to paediatric cancer predisposition and prevention

Up to 20% of paediatric patients with cancer may carry a germline pathogenic mutation in an established cancer predisposition gene, according to the article. The authors note that many CPSs may remain unidentified, including those involving modifier or low-penetrance genes, gene–environment interactions, epigenetic changes and structural genetic changes.

The Perspective describes approaches under investigation to improve surveillance and discover additional risk factors, including liquid biopsy, molecular or metabolic biomarkers, microbiome profiling and enhanced imaging. It also discusses research into targeted agents, vaccines and other preventive strategies, and the potential role of animal models in evaluating these interventions. Artificial intelligence is being applied to complex genetic and clinical data, pathology and diagnostic imaging to support risk prediction and surveillance planning.

The article reports no new patient data or tested clinical intervention. It notes that surveillance of children with known CPSs can support earlier cancer detection and better survival with less treatment-related toxicity, but the newer tools and prevention strategies remain emerging approaches rather than established recommendations.