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The mutREAD method detects mutational signatures from low quantities of cancer DNA

Author

Listed:
  • Juliane Perner

    (Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre)

  • Sujath Abbas

    (Medical Research Council Cancer Unit, Hutchison/Medical Research Council Research Centre, University of Cambridge)

  • Karol Nowicki-Osuch

    (Medical Research Council Cancer Unit, Hutchison/Medical Research Council Research Centre, University of Cambridge)

  • Ginny Devonshire

    (Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre)

  • Matthew D. Eldridge

    (Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre)

  • Simon Tavaré

    (Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre
    Irving Institute for Cancer Dynamics, Columbia University)

  • Rebecca C. Fitzgerald

    (Medical Research Council Cancer Unit, Hutchison/Medical Research Council Research Centre, University of Cambridge)

Abstract

Mutational processes acting on cancer genomes can be traced by investigating mutational signatures. Because high sequencing costs limit current studies to small numbers of good-quality samples, we propose a robust, cost- and time-effective method, called mutREAD, to detect mutational signatures from small quantities of DNA, including degraded samples. We show that mutREAD recapitulates mutational signatures identified by whole genome sequencing, and will ultimately allow the study of mutational signatures in larger cohorts and, by compatibility with formalin-fixed paraffin-embedded samples, in clinical settings.

Suggested Citation

  • Juliane Perner & Sujath Abbas & Karol Nowicki-Osuch & Ginny Devonshire & Matthew D. Eldridge & Simon Tavaré & Rebecca C. Fitzgerald, 2020. "The mutREAD method detects mutational signatures from low quantities of cancer DNA," Nature Communications, Nature, vol. 11(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16974-3
    DOI: 10.1038/s41467-020-16974-3
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    Cited by:

    1. Sujath Abbas & Oriol Pich & Ginny Devonshire & Shahriar A. Zamani & Annalise Katz-Summercorn & Sarah Killcoyne & Calvin Cheah & Barbara Nutzinger & Nicola Grehan & Nuria Lopez-Bigas & Rebecca C. Fitzg, 2023. "Mutational signature dynamics shaping the evolution of oesophageal adenocarcinoma," Nature Communications, Nature, vol. 14(1), pages 1-16, December.

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