Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

ABSTRACT: Patients harboring germline pathogenic biallelic variants in genes involved in the recognition and repair of DNA damage are known to have a substantially increased cancer risk. Emerging evidence suggests that individuals harboring heterozygous variants in these same genes may also be at heightened, albeit lesser, risk for cancer. Herein, we sought to determine whether heterozygous variants in RECQL4, the gene encoding an essential DNA helicase that is defective in children with the autosomal recessive cancer-predisposing condition Rothmund-Thomson syndrome (RTS), are associated with increased risk for childhood cancer. To address this question, we interrogated germline sequence data from 4435 pediatric cancer patients at St. Jude Children's Research Hospital and 1127 from the Nation

SUBMITTER: Maciaszek JL 

PROVIDER: S-EPMC6824257 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature