The Role of RECQ Helicases in the Pathogenesis of Osteosarcoma
We have previously shown that patients with Roth.mund-Thomson syndrome who carry constitutional mutations in the RECQL4 gene are highly predisposed to developing osteosarcoma. RECQL4 is a DNA helicase that functions to maintain genomic stability. The goal of this project is to determine whether RECQL4 mutations are present in sporadic osteosarcomas. Identification of such mutations by PCR and sequencing DNA from osteosarcoma samples will provide the basis for detailed investigation of the role of previously unexplored RECQ helicase pathways in the pathogenesis of sporadic osteosarcomas. These pathways may potentially serve as future therapeutic targets for osteosarcoma.