Integrative fragmentomic and mutational signature profile of plasma cfDNA for early lung cancer detection
A blood test detecting lung cancer DNA achieved over 95% accuracy across cancer types and stages, potentially offering a simpler screening option alongside existing methods.
A whole-genome cfDNA multi-omics assay combining fragmentomic features and mutational signatures achieved near-equivalent performance across lung cancer stages and histological subtypes, with AUC >95% in training/validation and 85.9% sensitivity in an independent external cohort. In simulated population screening, the ctDNA assay outperformed LDCT and a previously established method, suggesting potential as a complementary or standalone screening tool.
What the study was
- Study design
- Multi-cohort validation study (training + internal validation + external validation)
- Population
- Lung cancer patients and non-cancer controls
- Sample size
- 3200
- Category
- Early Detection
- Maturity
- Validated
- Journal
- NPJ Precision Oncology
Why it surfaced
Integrative multi-omics cfDNA approach with large n=1600 training + external validation cohort achieves AUC >95%; outperforms LDCT in simulated screening; addresses major unmet need for non-invasive lung cancer detection in broader populations.
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