Somatic structural variation targets neurodevelopmental genes and identifies <i>SHANK2</i> as a tumor suppressor in neuroblastoma.

ABSTRACT: Neuroblastoma is a malignancy of the developing sympathetic nervous system that accounts for 12% of childhood cancer deaths. Like many childhood cancers, neuroblastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small insertions and deletions (indels) compared to adult cancers. Here, we assessed the contribution of somatic structural variation (SV) in neuroblastoma using a combination of whole-genome sequencing (WGS) of tumor-normal pairs (n = 135) and single-nucleotide polymorphism (SNP) genotyping of primary tumors (n = 914). Our study design allowed for orthogonal validation and replication across platforms. SV frequency, type, and localization varied significantly among high-risk tumors. MYCN nonamplified high-risk tumors harbored an i

SUBMITTER: Lopez G 

PROVIDER: S-EPMC7545140 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature