Language
English
Publication Date
2-1-2026
Journal
Pediatric Blood & Cancer
DOI
10.1002/1545-5017.70055
PMID
41431348
PMCID
PMC13449798
PubMedCentral® Posted Date
8-8-2026
PubMedCentral® Full Text Version
Author MSS
Abstract
Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single-nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven genes, including CHD risk genes POGZ and LZTR1 (linked to Noonan syndrome and Schwannomatosis), showed nominal (p < 0.05) enrichment in both cohorts. CIC, IREB2, POGZ, and PCDHG cluster are associated with neurodevelopmental disorders, supporting shared developmental mechanisms. Findings warrant investigation of pathways linking congenital anomalies and childhood cancer.
Keywords
Humans, Neuroblastoma, Heart Defects, Congenital, Male, Female, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Child, Child, Preschool, Infant, Prognosis, congenital heart disease, neuroblastoma, pleiotropy, shared genetics, birth defects, childhood cancer
Published Open-Access
yes
Recommended Citation
Tark, Ji Yun; Renwick, Alexander; Yu, Yao; et al., "Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk." (2026). Faculty, Staff and Students Publications. 8224.
https://digitalcommons.library.tmc.edu/baylor_docs/8224