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Cancer signature ensemble integrating cfDNA methylation, copy number, and fragmentation facilitates multi-cancer early detection
- Title
- Cancer signature ensemble integrating cfDNA methylation, copy number, and fragmentation facilitates multi-cancer early detection
- Authors
- Kim; Su Yeon; Jeong; Seongmun; Lee; Wookjae; Jeon; Yujin; Yong-Jin; Park; Seowoo; Dongin; Go; Dayoung; Song; Sang-Hyun; Sanghoo; Woo; Hyun Goo; Yoon; Jung-Ki; Young Sik; Young Tae; Se-Hoon; Kwang Hyun; Lim; Yoojoo; Jin-Soo; Hwang-Phill; Bang; Duhee; Tae-You
- Ewha Authors
- 김광현
- SCOPUS Author ID
- 김광현
- Issue Date
- 2023
- Journal Title
- Experimental and Molecular Medicine
- ISSN
- 1226-3613
- Citation
- Experimental and Molecular Medicine vol. 55, no. 11, pp. 2445 - 2460
- Publisher
- Springer Nature
- Indexed
- SCIE; SCOPUS; KCI
- Document Type
- Article
- Abstract
- Cell-free DNA (cfDNA) sequencing has demonstrated great potential for early cancer detection. However, most large-scale studies have focused only on either targeted methylation sites or whole-genome sequencing, limiting comprehensive analysis that integrates both epigenetic and genetic signatures. In this study, we present a platform that enables simultaneous analysis of whole-genome methylation, copy number, and fragmentomic patterns of cfDNA in a single assay. Using a total of 950 plasma (361 healthy and 589 cancer) and 240 tissue samples, we demonstrate that a multifeature cancer signature ensemble (CSE) classifier integrating all features outperforms single-feature classifiers. At 95.2% specificity, the cancer detection sensitivity with methylation, copy number, and fragmentomic models was 77.2%, 61.4%, and 60.5%, respectively, but sensitivity was significantly increased to 88.9% with the CSE classifier (p value < 0.0001). For tissue of origin, the CSE classifier enhanced the accuracy beyond the methylation classifier, from 74.3% to 76.4%. Overall, this work proves the utility of a signature ensemble integrating epigenetic and genetic information for accurate cancer detection. © 2023, The Author(s).
- DOI
- 10.1038/s12276-023-01119-5
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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