IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v16y2025i1d10.1038_s41467-024-53696-2.html
   My bibliography  Save this article

Systems epigenetic approach towards non-invasive breast cancer detection

Author

Listed:
  • Chiara M. S. Herzog

    (Universität Innsbruck
    Universität Innsbruck)

  • Bente Theeuwes

    (Universität Innsbruck
    Universität Innsbruck)

  • Allison Jones

    (University College London)

  • Iona Evans

    (University College London)

  • Line Bjørge

    (University of Bergen
    Haukeland University Hospital)

  • Michal Zikan

    (First Faculty of Medicine and Hospital Na Bulovce)

  • David Cibula

    (Charles University)

  • Nadia Harbeck

    (LMU University Hospital)

  • Nicoletta Colombo

    (European Institute of Oncology IRCCS
    Department of Medicine and Surgery, University of Milano-Bicocca)

  • Nora Pashayan

    (University of Cambridge)

  • Martin Widschwendter

    (Universität Innsbruck
    Universität Innsbruck
    University College London
    Karolinska Institutet and Karolinska University Hospital)

Abstract

No study has systematically compared the suitability of DNA methylation (DNAme) profiles in non-invasive samples for the detection of breast cancer (BC). We assess non-tumour DNAme in 1,100 cervical, buccal, and blood samples from BC cases and controls and find that cervical samples exhibit the largest nuber of differentially methylated sites, followed by buccal samples. No sites were significant in blood after FDR adjustment. Deriving DNAme-based classifiers for BC detection in each sample type (WID-buccal-, cervical-, or blood-BC), we achieve validation AUCs of 0.75, 0.66, and 0.51, respectively. Buccal and cervical BC-associated DNAme alterations distinguish between BC cases and controls in both surrogate and breast tissue (AUC > 0.88), yet individual sites and the directionality of methylation changes are not identical between these two sample types, and buccal sample DNAme aligns with breast methylation changes more closely. Pending additional validation, these insights may have the potential to improve non-invasive personalized BC prevention.

Suggested Citation

  • Chiara M. S. Herzog & Bente Theeuwes & Allison Jones & Iona Evans & Line Bjørge & Michal Zikan & David Cibula & Nadia Harbeck & Nicoletta Colombo & Nora Pashayan & Martin Widschwendter, 2025. "Systems epigenetic approach towards non-invasive breast cancer detection," Nature Communications, Nature, vol. 16(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-024-53696-2
    DOI: 10.1038/s41467-024-53696-2
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-024-53696-2
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-024-53696-2?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-024-53696-2. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.