Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.

ABSTRACT: Neuroblastoma is a paediatric malignancy that typically arises in early childhood, and is derived from the developing sympathetic nervous system. Clinical phenotypes range from localized tumours with excellent outcomes to widely metastatic disease in which long-term survival is approximately 40% despite intensive therapy. A previous genome-wide association study identified common polymorphisms at the LMO1 gene locus that are highly associated with neuroblastoma susceptibility and oncogenic addiction to LMO1 in the tumour cells. Here we investigate the causal DNA variant at this locus and the mechanism by which it leads to neuroblastoma tumorigenesis. We first imputed all possible genotypes across the LMO1 locus and then mapped highly associated single nucleotide polymorphism (SNPs) to area

SUBMITTER: Oldridge DA 

PROVIDER: S-EPMC4775078 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature