Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer.
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
23
01
2023
accepted:
19
06
2023
medline:
11
8
2023
pubmed:
28
7
2023
entrez:
27
7
2023
Statut:
ppublish
Résumé
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were associated with replication timing and other chromatin features. A machine-learning model using genome-wide mutational profiles combined with other features and followed by CT imaging detected >90% of patients with lung cancer, including those with stage I and II disease. The fixed model was validated in an independent cohort, detected patients with cancer earlier than standard approaches and could be used to monitor response to therapy. This approach lays the groundwork for non-invasive cancer detection using genome-wide mutation features that may facilitate cancer screening and monitoring.
Identifiants
pubmed: 37500728
doi: 10.1038/s41588-023-01446-3
pii: 10.1038/s41588-023-01446-3
pmc: PMC10412448
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1301-1310Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM136577
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA121113
Pays : United States
Organisme : NCI NIH HHS
ID : UG1 CA233259
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA062924
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA006973
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2023. The Author(s).
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