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Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers

Author

Listed:
  • Vallijah Subasri

    (The Hospital for Sick Children
    University of Toronto
    Vector Institute)

  • Benjamin Brew

    (The Hospital for Sick Children)

  • Brianne Laverty

    (The Hospital for Sick Children
    University of Toronto)

  • Lauren Erdman

    (The Hospital for Sick Children
    Vector Institute
    University of Toronto)

  • Tanya Guha

    (The Hospital for Sick Children
    University of Toronto)

  • Jordan R. Hansford

    (Royal Children’s Hospital
    Murdoch Children’s Research Institute
    University of Melbourne
    Women’s and Children’s Hospital)

  • Elizabeth Cairney

    (Children’s Hospital at London Health Sciences Centre
    Western University)

  • Carol Portwine

    (McMaster University)

  • Christine Elser

    (University of Toronto
    Princess Margaret Hospital
    Mount Sinai Hospital)

  • Jonathan L. Finlay

    (The Ohio State University College of Medicine)

  • Kim E. Nichols

    (St Jude Children’s Research Hospital)

  • Jo Anson

    (University of Utah)

  • Wendy Kohlmann

    (University of Utah)

  • Haifan Gong

    (The Hospital for Sick Children)

  • Jodi Lees

    (The Hospital for Sick Children)

  • Noa Alon

    (The Hospital for Sick Children)

  • Ledia Brunga

    (The Hospital for Sick Children)

  • Anita Villani

    (The Hospital for Sick Children
    University of Toronto)

  • Kelvin C. Andrade

    (National Institutes of Health)

  • Payal P. Khincha

    (National Institutes of Health)

  • Sharon A. Savage

    (National Institutes of Health)

  • Joshua D. Schiffman

    (University of Utah)

  • Trevor J. Pugh

    (University of Toronto
    University Health Network
    Ontario Institute for Cancer Research)

  • David Malkin

    (The Hospital for Sick Children
    University of Toronto
    University of Toronto
    The Hospital for Sick Children)

  • Anna Goldenberg

    (The Hospital for Sick Children
    Vector Institute
    University of Toronto
    CIFAR)

Abstract

Li-Fraumeni syndrome (LFS) confers high lifetime cancer risk due to germline TP53 pathogenic variants (PV). A comprehensive surveillance regimen termed the ‘Toronto Protocol’, has been adopted for early tumor detection, demonstrating improved survival among TP53 PV carriers. However, the protocol’s “one-size-fits-all” approach fails to consider individual cancer risk. To personalize screening, we developed a support vector machine model to predict early onset of primary tumors (age

Suggested Citation

  • Vallijah Subasri & Benjamin Brew & Brianne Laverty & Lauren Erdman & Tanya Guha & Jordan R. Hansford & Elizabeth Cairney & Carol Portwine & Christine Elser & Jonathan L. Finlay & Kim E. Nichols & Jo A, 2025. "Peripheral blood DNA methylation predicts the early onset of primary tumor in TP53 mutation carriers," Nature Communications, Nature, vol. 16(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-62894-5
    DOI: 10.1038/s41467-025-62894-5
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