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Unravelling mutational signatures with plasma circulating tumour DNA

Author

Listed:
  • Sebastian Hollizeck

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Ning Wang

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Stephen Q. Wong

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Cassandra Litchfield

    (Peter MacCallum Cancer Centre)

  • Jerick Guinto

    (Peter MacCallum Cancer Centre)

  • Sarah Ftouni

    (Peter MacCallum Cancer Centre)

  • Richard Rebello

    (The University of Melbourne)

  • Sehrish Kanwal

    (The University of Melbourne)

  • Ruining Dong

    (The University of Melbourne)

  • Sean Grimmond

    (The University of Melbourne)

  • Shahneen Sandhu

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Linda Mileshkin

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Richard W. Tothill

    (The University of Melbourne
    The University of Melbourne
    The University of Melbourne)

  • Dineika Chandrananda

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Sarah-Jane Dawson

    (Peter MacCallum Cancer Centre
    The University of Melbourne
    The University of Melbourne)

Abstract

The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes. Here we present MisMatchFinder, a liquid biopsy approach for mutational signature detection using low-coverage whole-genome sequencing of ctDNA. Through analysis of 375 plasma samples across 9 cancers, we demonstrate that MisMatchFinder accurately infers single-base and doublet-base substitutions, as well as insertions and deletions to enhance the detection of ctDNA and clinically relevant mutational signatures.

Suggested Citation

  • Sebastian Hollizeck & Ning Wang & Stephen Q. Wong & Cassandra Litchfield & Jerick Guinto & Sarah Ftouni & Richard Rebello & Sehrish Kanwal & Ruining Dong & Sean Grimmond & Shahneen Sandhu & Linda Mile, 2024. "Unravelling mutational signatures with plasma circulating tumour DNA," Nature Communications, Nature, vol. 15(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-54193-2
    DOI: 10.1038/s41467-024-54193-2
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