Unravelling mutational signatures with plasma circulating tumour DNA.

Autor: Hollizeck S; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Wang N; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Wong SQ; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Litchfield C; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Guinto J; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Ftouni S; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Rebello R; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia., Kanwal S; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia., Dong R; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia., Grimmond S; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia., Sandhu S; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Mileshkin L; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia., Tothill RW; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia.; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, Australia., Chandrananda D; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. Dineika.Chandrananda@petermac.org.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. Dineika.Chandrananda@petermac.org., Dawson SJ; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. Sarah-Jane.Dawson@petermac.org.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. Sarah-Jane.Dawson@petermac.org.; Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia. Sarah-Jane.Dawson@petermac.org.
Jazyk: angličtina
Zdroj: Nature communications [Nat Commun] 2024 Nov 14; Vol. 15 (1), pp. 9876. Date of Electronic Publication: 2024 Nov 14.
DOI: 10.1038/s41467-024-54193-2
Abstrakt: 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.
Competing Interests: Competing interests The authors declare the following competing interests: S.-J.D. is an advisory board member for Adela. The remaining authors declare no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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