Copy Number Variation Linked to Neuroblastoma

CNVs, changes in the copy number of specific DNA segments, stand alongside the better known single nucleotide polymorphisms (SNPs) as significant sources of genetic diversity. However, whereas certain SNPs have been found to contribute to cancer susceptibility, the role of CNVs remains less clear.

Here, John Maris and colleagues performed a genome-wide association study in patients with neuroblastoma - a cancer of the sympathetic nerve cells that control our fight or flight response and most commonly affects young children. They find that a common, heritable CNV found on chromosome 1 is frequently associated with the disease. The team highlights the presence of a previously unknown neuroblastoma-related gene within the CNV that is preferentially expressed in fetal brain and sympathetic nerve tissues. It's thought that this gene may be implicated in the early stages of tumour development.

CONTACT

John Maris (The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, PA, USA)
E-mail: maris@chop.edu

(C) Nature press release.

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