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. 2025 Aug;31(8):2737-2745.
doi: 10.1038/s41591-025-03735-2. Epub 2025 May 27.

Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics

Hua Bao #  1 , Shanshan Yang #  1 , Xiaoxi Chen #  1 , Guangqiang Dong  2 , Yuan Mao  3 , Shuyu Wu  1 , Xi Cheng  1 , Xuxiaochen Wu  1 , Wanxiangfu Tang  1 , Min Wu  1 , Shiting Tang  1 , Wenhua Liang  4 , Zheng Wang  5 , Liu Yang  6 , Jiaqi Liu  7 , Tao Wang  8 , Bingzhong Zhang  9 , Kuirong Jiang  10 , Qin Xu  11 , Jierong Chen  12 , Hairong Huang  13 , Junjie Peng  14 , Xiaomeng Xia  15 , Yumei Wu  16 , Shun Xu  17 , Ji Tao  18 , Li Chong  19 , Dongqin Zhu  1 , Ruowei Yang  1 , Shuang Chang  1 , Peng He  1 , Xiuxiu Xu  1 , JinPeng Zhang  1 , Yi Shen  1 , Ya Jiang  1 , Sisi Liu  1 , Xian Zhang  1 , Xue Wu  1 , Xiaonan Wang  1 , Yang Shao  20   21
Affiliations

Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics

Hua Bao et al. Nat Med. 2025 Aug.

Abstract

The multicancer early detection (MCED) test has the potential to enhance current cancer-screening methods. We evaluated a new MCED test that analyzes plasma cell-free DNA using genetic- and fragmentomics-based features from whole-genome sequencing. The present study included an internal validation cohort of 3,021 patients with cancer and 3,370 noncancer controls, and an independent cohort of 677 patients with cancer and 687 noncancer individuals. The results demonstrated an overall sensitivity of 87.4%, specificity of 97.8% and tissue-of-origin prediction accuracy of 82.4% in the independent validation cohort. Preliminary results from a prospective study of 3,724 asymptomatic participants showed a sensitivity of 53.5% (predominantly early stage cancers) and specificity of 98.1%. These findings indicate that the MCED test has strong potential to improve early cancer detection and support clinical decision-making.

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Conflict of interest statement

Competing interests: H.B., S.Y., X. Chen, S.W., X. Cheng, W.T., M.W., S.T., D.Z., R.Y., S.C., P.H., X. Xu, J.Z., Y. Shen, Y.J., S.L., X.Z., Xue Wu, X. Wang and Y. Shao are employees of Nanjing Geneseeq Technology Inc. The other authors declare no competing interests.

References

    1. Banatvala, N., Akselrod, S., Bovet, P. & Mendis, S. in Noncommunicable Diseases 234–239 (Routledge, 2023).
    1. Siegel, R. L., Miller, K. D. & Jemal, A. Cancer statistics, 2020. CA Cancer J. Clin. 70, 7–30 (2020). - PubMed
    1. Sung, H. et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 71, 209–249 (2021). - PubMed
    1. Guide to Cancer Early Diagnosis (World Health Organization, 2017).
    1. Siu, A. L. et al. Screening for breast cancer: US Preventive Services Task Force recommendation statement. Ann. Intern. Med. 164, 279–296 (2016). - PubMed

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