Genetic testing panel finds cancer predisposition diagnoses in nearly half of unresolved pediatric cases
Doctors running an interdisciplinary cancer predisposition consultation model reviewed 144 pediatric patients in a retrospective cohort study published in the European Journal of Human Genetics. Ninety-nine of those patients had clinical features suggestive of a cancer predisposition syndrome, and 53 of them had cancer. The remaining 45 children showed no symptoms but were referred because of family history. Among the 50 symptomatic, undiagnosed patients who went on to genetic testing, 23 turned out to carry a disease-causing variant in a CPS gene, a yield of 46%. Predictive testing in the 32 asymptomatic children found the familial pathogenic variant in 14 of them, or 43.8%.
The consultation model gave nearly half of previously undiagnosed symptomatic children a confirmed genetic explanation for their cancer risk, and almost all confirmed patients left with a surveillance plan tailored to their condition.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].