Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Journal: Human molecular genetics
Published Date: Jan 20, 2024

Abstract

BACKGROUND: Mutations within the Von Hippel-Lindau (VHL) tumor suppressor gene are known to cause VHL disease, which is characterized by the formation of cysts and tumors in multiple organs of the body, particularly clear cell renal cell carcinoma (ccRCC). A major challenge in clinical practice is determining tumor risk from a given mutation in the VHL gene. Previous efforts have been hindered by limited available clinical data and technological constraints.

Authors

  • Adam Serghini
    School of Chemistry and Molecular Biosciences, Chemistry Building 68, Cooper Road, The University of Queensland, St Lucia, QLD 4072, Queensland, Australia.
  • Stephanie Portelli
    Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Victoria, 3010, Australia.
  • Guillaume Troadec
    School of Computing and Information Systems, University of Melbourne, Melbourne, VIC 3010, Australia.
  • Catherine Song
    Soundable Health, Inc., California, San Francisco, USA.
  • Qisheng Pan
    School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.
  • Douglas E V Pires
    Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, Australia.
  • David B Ascher
    Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, Australia.

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