Article
Rare germline structural variants increase risk for pediatric solid tumors.
Science (New York, N.Y.) - 3 Jan 2025
Gillani Riaz, Collins Ryan L, Crowdis Jett, Garza Amanda, Jones Jill K, Walker Mark, Sanchis-Juan Alba, Whelan Christopher W, Pierce-Hoffman Emma, Talkowski Michael E, Brand Harrison, Haigis Kevin, LoPiccolo Jaclyn, AlDubayan Saud H, Gusev Alexander, Crompton Brian D, Janeway Katherine A, Van Allen Eliezer M
Abstract excerpt
Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using germline genome sequencing of 1765 affected children, their 943 unaffected parents, and 6665 adult controls. We discovered a sex-biased association between very large (>1 megabase) germline chromosomal abnormalities...
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