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A multiplex blood-based assay targeting DNA methylation in PBMCs enables early detection of breast cancer

Author

Listed:
  • Tiantian Wang

    (The Second Hospital of Shandong University)

  • Peilong Li

    (The Second Hospital of Shandong University)

  • Qiuchen Qi

    (The Second Hospital of Shandong University)

  • Shujun Zhang

    (The Second Hospital of Shandong University)

  • Yan Xie

    (The Second Hospital of Shandong University)

  • Jing Wang

    (The Second Hospital of Shandong University)

  • Shibiao Liu

    (The Second Hospital of Shandong University)

  • Suhong Ma

    (The Second Hospital of Shandong University)

  • Shijun Li

    (The First Hospital of Dalian Medical University)

  • Tingting Gong

    (The First Affiliated Hospital of Anhui Medical University)

  • Huiting Xu

    (Affiliated Tumor Hospital of Nantong University, 226361, Jiangsu, China; Medical School of Nantong University)

  • Mengqiu Xiong

    (Nanjing Medical University)

  • Guanghua Li

    (Guangdong Provincial People’s Hospital/Guangdong Academy of Medical Sciences)

  • Chongge You

    (Lanzhou University Second Hospital, the Second Clinical Medical College of Lanzhou University)

  • Zhaofan Luo

    (The Seventh Affiliated Hospital of Sun Yat-Sen University)

  • Juan Li

    (The Second Hospital of Shandong University)

  • Lutao Du

    (The Second Hospital of Shandong University
    Qilu Hospital of Shandong University, Shandong Provincial Key Laboratory of Innovation Technology in Laboratory Medicine)

  • Chuanxin Wang

    (The Second Hospital of Shandong University
    Shandong Engineering & Technology Research Center for Tumor Marker Detection
    Shandong Provincial Clinical Medicine Research Center for Clinical Laboratory)

Abstract

The immune system can monitor tumor development, and DNA methylation is involved in the body’s immune response to tumors. In this work, we investigate whether DNA methylation alterations in peripheral blood mononuclear cells (PBMCs) could be used as markers for early detection of breast cancer (BC) from the perspective of tumor immune alterations. We identify four BC-specific methylation markers by combining Infinium 850 K BeadChips, pyrosequencing and targeted bisulfite sequencing. Based on the four methylation markers in PBMCs of BC, we develop an efficient and convenient multiplex methylation-specific quantitative PCR assay for the detection of BC and validate its diagnostic performance in a multicenter cohort. This assay was able to distinguish early-stage BC patients from normal controls, with an AUC of 0.940, sensitivity of 93.2%, and specificity of 90.4%. More importantly, this assay outperformed existing clinical diagnostic methods, especially in the detection of early-stage and minimal tumors.

Suggested Citation

  • Tiantian Wang & Peilong Li & Qiuchen Qi & Shujun Zhang & Yan Xie & Jing Wang & Shibiao Liu & Suhong Ma & Shijun Li & Tingting Gong & Huiting Xu & Mengqiu Xiong & Guanghua Li & Chongge You & Zhaofan Lu, 2023. "A multiplex blood-based assay targeting DNA methylation in PBMCs enables early detection of breast cancer," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-40389-5
    DOI: 10.1038/s41467-023-40389-5
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    References listed on IDEAS

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    1. Jacob J. Chabon & Emily G. Hamilton & David M. Kurtz & Mohammad S. Esfahani & Everett J. Moding & Henning Stehr & Joseph Schroers-Martin & Barzin Y. Nabet & Binbin Chen & Aadel A. Chaudhuri & Chih Lon, 2020. "Integrating genomic features for non-invasive early lung cancer detection," Nature, Nature, vol. 580(7802), pages 245-251, April.
    2. Xingdong Chen & Jeffrey Gole & Athurva Gore & Qiye He & Ming Lu & Jun Min & Ziyu Yuan & Xiaorong Yang & Yanfeng Jiang & Tiejun Zhang & Chen Suo & Xiaojie Li & Lei Cheng & Zhenhua Zhang & Hongyu Niu & , 2020. "Non-invasive early detection of cancer four years before conventional diagnosis using a blood test," Nature Communications, Nature, vol. 11(1), pages 1-10, December.
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