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

Ymke Van Der Pol, Florent Mouliere*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review


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
Issue number4
Publication statusPublished - 14 Oct 2019

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