The study analyzes exome sequencing data from 75,602 pediatric patients referred for genetic testing, tracking cancer as a secondary finding. It identifies 501 pathogenic or likely pathogenic variants in 139 tumor susceptibility genes and demonstrates a significantly higher incidence of malignant tumors in those carrying P/LP variants compared to those with variants of uncertain significance. Additionally, the study highlights the importance of proactive genetic counseling and surveillance for pediatric patients with pathogenic germline variants and explores the underlying cancer risk in children.
Next-generation sequencing technologies have been widely applied in diagnosing genetic disorders in pediatric patients, providing insights into cancer predisposition and tumor characteristic s in individuals with germline pathogenic variants .
A study on childhood cancer incidence supported the need for proactive genetic counseling and surveillance for pediatric patients with pathogenic variants. However, the risk remains poorly understood, particularly due to the lack of longitudinal studies tracking timed outcomes. Our systematic collection of NGS data from pediatric patients referred for diverse clinical indications has highlighted the significance of investigating underlying cancer risk in children with pathogenic germline variants
Pediatric Medicine Cancer Predisposition And Tumor Characteristic Next-Generation Sequencing Technologies Germline Pathogenic Variants Tumor Susceptibility Genes Endocrine System Related Symptoms Metabolic Disorders Immune Dysfunction Human Phenotype Ontology (HPO) Proactive Genetic Counseling Proactive Surveillance Long-Term Cancer Predisposition Cancer-Associated Germline Variants
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