Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.

ABSTRACT: Neuroblastoma is a cancer of the developing sympathetic nervous system. It is diagnosed in 600-700 children per year in the United States and accounts for 12% of pediatric cancer deaths. Despite recent advances in our understanding of this malignancy's complex genetic architecture, the contribution of rare germline variants remains undefined. Here, we conducted a genome-wide analysis of large (>500 kb), rare (<1%) germline copy number variants (CNVs) in two independent, multi-ethnic cohorts totaling 5,585 children with neuroblastoma and 23,505 cancer-free control children. We identified a 550-kb deletion on chromosome 16p11.2 significantly enriched in neuroblastoma cases (0.39% of cases and 0.03% of controls; p = 3.34 × 10^-9). Notably, this CNV corresponds to a known microdeleti

SUBMITTER: Egolf LE 

PROVIDER: S-EPMC6731370 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature