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

Juliane Perner, Sujath Abbas, Karol Nowicki-Osuch, Ginny Devonshire, Matthew D. Eldridge, Simon Tavaré and Rebecca C. Fitzgerald ()
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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
Rebecca C. Fitzgerald: Medical Research Council Cancer Unit, Hutchison/Medical Research Council Research Centre, University of Cambridge

Nature Communications, 2020, vol. 11, issue 1, 1-7

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-16974-3

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