Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.

Abstract excerpt

Population-based genomic newborn screening identifying newborns at risk for early-onset cancers has not been evaluated. Here, within a Michigan birth cohort (1987-2020), we identify all children developing a solid or central nervous system malignancy by age 8 years (n = 1948). We perform targeted sequencing of 11 cancer predisposition genes using archived newborn dried blood spot DNA. We find pathogenic or...

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• Child
• Child, Preschool
• Dried Blood Spot Testing
• Genomics
• Germ-Line Mutation