Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.

ABSTRACT:

Background

Ewing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have identified 6 common germline susceptibility loci but have not investigated low-frequency inherited variants with minor allele frequencies below 5% due to limited genotyped cases of this rare tumor.

Methods

We investigated the contribution of rare and low-frequency variation to EwS susceptibility in the largest EwS genome-wide association study to date (733 EwS cases and 1,346 unaffected controls of European ancestry).

Results

We identified two low-frequency variants, rs112837127 and rs2296730, on chromosome 20 that were

SUBMITTER: Lin SH 

PROVIDER: S-EPMC7470401 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature