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RECQ DNA Helicases and Osteosarcoma

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Current Advances in the Science of Osteosarcoma

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1258))

Abstract

The RECQ family of DNA helicases is a conserved group of enzymes that plays an important role in maintaining genomic stability. Humans possess five RECQ helicase genes, and mutations in three of them – BLM, WRN, and RECQL4 – are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively. These syndromes share overlapping clinical features, and importantly they are all associated with an increased risk of cancer. Patients with RTS have the highest specific risk of developing osteosarcoma compared to all other cancer predisposition syndromes; therefore, RTS serves as a relevant model to study the pathogenesis and molecular genetics of osteosarcoma. The “tumor suppressor” function of the RECQ helicases continues to be an area of active investigation. This chapter will focus primarily on the known cellular functions of RECQL4 and how these may relate to tumorigenesis, as well as ongoing efforts to understand RECQL4’s functions in vivo using animal models. Understanding the RECQ pathways will provide insight into avenues for novel cancer therapies in the future.

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Authors and Affiliations

  1. Department of Pediatrics, Section of Hematology/Oncology, Texas Children’s Cancer Center, Baylor College of Medicine, Houston, TX, USA

    Linchao Lu, Weidong Jin & Lisa L. Wang

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  1. Linchao Lu
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  1. Department of Pediatric Research Department of Cancer Biology, University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Eugenie S. Kleinerman

  2. Division of Pediatrics, University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Richard Gorlick

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Lu, L., Jin, W., Wang, L.L. (2020). RECQ DNA Helicases and Osteosarcoma. In: Kleinerman, E., Gorlick, R. (eds) Current Advances in the Science of Osteosarcoma. Advances in Experimental Medicine and Biology, vol 1258. Springer, Cham. https://doi.org/10.1007/978-3-030-43085-6_3

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