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LIQUID BIOPSIES

Enhanced cancer detection from cell-free DNA

Nature Biotechnology volume 40, pages 473–474 (2022)Cite this article

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A new assay for cell-free DNA fragmentation improves prediction of gene expression in liquid biopsies.

Previous studies of cfDNA have led to noninvasive methods for prenatal testing3, cancer liquid biopsy4 and transplantation monitoring5. Early work in the field focused on detection of genetic variations, such as single-nucleotide mutations. In patients with cancer, because the vast majority of cfDNA fragments is not mutated, typically cancers at advanced stages are more readily detected. Studies have indicated that the fragmentation patterns of cfDNA — including fragment sizes6,7, fragment ends8, jagged ends9 and nucleosome footprints10,11 — might carry information related to the tissues of origin. These studies suggest that cfDNA fragmentation patterns reflect underlying chromatin structures and gene expression. However, these previous studies were not specifically designed for resolving RNA expression levels of individual genes using cfDNA fragmentation patterns.

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Fig. 1: Analysis of the diversity of fragment sizes.

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Authors and Affiliations

  1. Centre for Novostics, Hong Kong Science Park, Hong Kong Special Administrative Region, China

    Peiyong Jiang & Y. M. Dennis Lo

  2. Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China

    Peiyong Jiang & Y. M. Dennis Lo

  3. State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China

    Y. M. Dennis Lo

Authors
  1. Peiyong Jiang
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  2. Y. M. Dennis Lo
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Correspondence to Y. M. Dennis Lo.

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Competing interests

Y.M.D.L. holds equity in DRA, Take2 and Grail/Illumina. Y.M.D.L. is a scientific cofounder of Grail. P.J. holds equity in DRA and Grail/Illumina. P.J. is a consultant to Take2. P.J. is a Director of KingMed Future. Patent royalties are received from Grail, Illumina, Sequenom, DRA, Take2 Health and Xcelom.

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Jiang, P., Lo, Y.M.D. Enhanced cancer detection from cell-free DNA. Nat Biotechnol 40, 473–474 (2022). https://doi.org/10.1038/s41587-021-01207-9

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  • DOI: https://doi.org/10.1038/s41587-021-01207-9

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