Unravelling mutational signatures with plasma circulating tumour DNA.
Where this comes from
- Record sourced from PubMed, PMID 39543119.
- Also identified by DOI 10.1038/s41467-024-54193-2 and PMC identifier 11564803.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Circulating Tumor DNA
- Mutation
- Neoplasms