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Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers.
- Source :
-
Cancer discovery [Cancer Discov] 2024 Sep 30. Date of Electronic Publication: 2024 Sep 30. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
-
Abstract
- Ovarian cancer is a leading cause of death for women worldwide in part due to ineffective screening methods. In this study, we used whole-genome cell-free DNA (cfDNA) fragmentome and protein biomarker (CA-125 and HE4) analyses to evaluate 591 women with ovarian cancer, benign adnexal masses, or without ovarian lesions. Using a machine learning model with the combined features, we detected ovarian cancer with specificity >99% and sensitivity of 72%, 69%, 87%, and 100% for stages I-IV, respectively. At the same specificity, CA-125 alone detected 34%, 62%, 63%, and 100% of ovarian cancers for stages I-IV. Our approach differentiated benign masses from ovarian cancers with high accuracy (AUC=0.88, 95% CI=0.83-0.92). These results were validated in an independent population. These findings show that integrated cfDNA fragmentome and protein analyses detect ovarian cancers with high performance, enabling a new accessible approach for noninvasive ovarian cancer screening and diagnostic evaluation.
Details
- Language :
- English
- ISSN :
- 2159-8290
- Database :
- MEDLINE
- Journal :
- Cancer discovery
- Publication Type :
- Academic Journal
- Accession number :
- 39345137
- Full Text :
- https://doi.org/10.1158/2159-8290.CD-24-0393