Allele-specific expression reveals genes with recurrent cis-regulatory alterations in high-risk neuroblastoma.

ABSTRACT:

Background

Neuroblastoma is a pediatric malignancy with a high frequency of metastatic disease at initial diagnosis. Neuroblastoma tumors have few recurrent protein-coding mutations but contain extensive somatic copy number alterations (SCNAs) suggesting that mutations that alter gene dosage are important drivers of tumorigenesis. Here, we analyze allele-specific expression in 96 high-risk neuroblastoma tumors to discover genes impacted by cis-acting mutations that alter dosage.

Results

We identify 1043 genes with recurrent, neuroblastoma-specific allele-specific expression. While most of these genes lie within common SCNA regions, many of them exhibit allele-specific expression in copy neutral samples and these samples are enriched for mutations that are predicted to cause

SUBMITTER: Sen A 

PROVIDER: S-EPMC8896304 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature