Unravelling mutational signatures with plasma circulating tumour DNA

Sebastian Hollizeck, Ning Wang, Stephen Q. Wong, Cassandra Litchfield, Jerick Guinto, Sarah Ftouni, Richard Rebello, Sehrish Kanwal, Ruining Dong, Sean Grimmond, Shahneen Sandhu, Linda Mileshkin, Richard W. Tothill, Dineika Chandrananda () and Sarah-Jane Dawson ()
Additional contact information
Sebastian Hollizeck: Peter MacCallum Cancer Centre
Ning Wang: Peter MacCallum Cancer Centre
Stephen Q. Wong: Peter MacCallum Cancer Centre
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
Linda Mileshkin: Peter MacCallum Cancer Centre
Richard W. Tothill: The University of Melbourne
Dineika Chandrananda: Peter MacCallum Cancer Centre
Sarah-Jane Dawson: Peter MacCallum Cancer Centre

Nature Communications, 2024, vol. 15, issue 1, 1-9

Abstract: 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.

Date: 2024
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-54193-2

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DOI: 10.1038/s41467-024-54193-2

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