Toward the Early Detection of Cancer by Decoding the Epigenetic and Environmental Fingerprints of Cell-Free DNA

Ymke van der Pol, Florent Mouliere

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Widespread adaptation of liquid biopsy for the early detection of cancer has yet to reach clinical utility. Circulating tumor DNA is commonly detected though the presence of genetic alterations, but only a minor fraction of tumor-derived cell-free DNA (cfDNA) fragments exhibit mutations. The cellular processes occurring in cancer development mark the chromatin. These epigenetic marks are reflected by modifications in the cfDNA methylation, fragment size, and structure. In this review, we describe how going beyond DNA sequence information alone, by analyzing cfDNA epigenetic and immune signatures, boosts the potential of liquid biopsy for the early detection of cancer.
    Original languageEnglish
    Pages (from-to)350-368
    Number of pages19
    JournalCancer Cell
    Volume36
    Issue number4
    DOIs
    Publication statusPublished - 14 Oct 2019

    Keywords

    • liquid biopsy
    • cell-free DNA
    • circulating tumor DNA
    • cancer
    • mutation
    • fragmentation
    • chromatin
    • epigenetic
    • methylation
    • vesicle
    • exosome

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