Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer.

ABSTRACT: 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 approac

SUBMITTER: Bruhm DC 

PROVIDER: S-EPMC10412448 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature