Unravelling mutational signatures with plasma circulating tumour DNA
- Author(s)
- Hollizeck, S; Wang, N; Wong, SQ; Litchfield, C; Guinto, J; Ftouni, S; Rebello, R; Kanwal, S; Dong, R; Grimmond, S; Sandhu, S; Mileshkin, L; Tothill, RW; Chandrananda, D; Dawson, SJ;
- Details
- Publication Year 2024-11-14,Volume 15,Issue #1,Page 9876
- Journal Title
- Nature Communications
- Publication Type
- Research article
- 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.
- Publisher
- Springer Nature
- Keywords
- Humans; *Circulating Tumor DNA/genetics/blood; *Mutation; *Neoplasms/genetics/blood; Liquid Biopsy/methods; Whole Genome Sequencing/methods; DNA Mutational Analysis/methods; Biomarkers, Tumor/genetics/blood; DNA, Neoplasm/genetics/blood
- Department(s)
- Laboratory Research
- Publisher's Version
- https://doi.org/10.1038/s41467-024-54193-2
- Open Access at Publisher's Site
https://doi.org/10.1038/s41467-024-54193-2- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2024-12-12 03:22:38
Last Modified: 2024-12-12 03:29:25