Event-related potential correlates of visual processing across obsessive-compulsive and anxiety spectrum disorders: A scoping review.

Neuroblastoma (NB), an embryonal tumor of sympathetic nervous tissue, is the most frequent non-central nervous system solid tumor in children and accounts for 12% ~ 15% of childhood cancer-related deaths. Epidemiologic studies have suggested an association between NB and congenital heart disease (CHD). Using data from the Genetic Association Between Anomalies and Cancer in Kids (GOBACK) Study, we previously found a 3.4-fold increased NB risk among children with CHD compared to those without (95% CI 2.6–4.5). A biological link is plausible as both involve neural crest–derived cells, crucial for cardiac development and serve as progenitors of NB. Despite this association, the genetic overlap between CHD and NB remains largely unexplored. One genome-wide association study (GWAS) identified susceptibility loci containing common single nucleotide polymorphisms (SNPs) for both conditions (p < 0.001), suggesting a shared genetic basis. However, studies investigating rare variants are scarce. Whole genome sequencing (WGS) has underscored the importance of mutations in pediatric disorders, particularly CHD and co-occurring conditions such as neurodevelopmental disorders. We focused on variants (DNVs) because they are enriched in sporadic, early-onset CHD and are under strong negative selection, yielding larger effect sizes than inherited variants. Using WGS, we investigated the potential pleiotropic effects of rare single nucleotide variants (SNVs) in CHD and NB parent-offspring trios, hypothesizing that shared variants contribute to their co-occurrence. The Gabriella Miller Kids First (GMKF) Research Program, funded by the National Institutes of Health, supports large-scale sharing of clinical and genomic data on childhood cancers and birth defects. We obtained WGS data from the GMKF Data Resource Center (DRC) for 702 CHD (dbGaP phs001138.v4.p2) and 454 NB (dbGaP phs001436.v1.p1) trios. NB trios were part of the Neuroblastoma Epidemiology in North America (NENA) study, which used a case-parent triad design with cases identified from the Childhood Cancer Research Network, maintained by the Children’s Oncology Group. CHD data, derived from a previously published cohort, excluded patients with known trisomies or pathogenic copy number variants. We downloaded multi-sample variant call files from CAVATICA generated by the GMKF DRC.