Virchows Archiv

, Volume 471, Issue 2, pp 147–154 | Cite as

Liquid biopsy: unlocking the potentials of cell-free DNA

  • David Chu
  • Ben Ho ParkEmail author
Invited Annual Review Issue


Circulating tumor DNA (ctDNA) has garnered much excitement over the past few years for its potential clinical utility as a surrogate for tumor biopsies in early cancer detection and prognosis. Numerous studies have demonstrated that ctDNA is shed into the circulation and is elevated in disease states such as cancer. Despite the low levels of ctDNA in the “sea” of normal DNA, advances in next generation sequencing (NGS) and digital polymerase chain reaction (PCR) technologies have led to dramatic improvements in variant detection sensitivity and specificity. These technologies allow the quantification of ctDNA, providing both prognostic and predictive information. Here, we review the history of cell-free DNA and different technologies for the detection of ctDNA in cancer and describe the different modalities for using ctDNA in clinical oncology.


Mutation Breast cancer Circulating tumor DNA Plasma tumor DNA 



This work was supported by the Avon Foundation and the Breast Cancer Research Foundation. We would also like to thank and acknowledge the support of NIH P30 CA006973, the Sandy Garcia Charitable Foundation, the Commonwealth Foundation, the Mike and Dianne Canney Foundation, the Marcie Ellen Foundation, and the Helen Golde Trust. None of the funding sources influenced the design, interpretation, or submission of this manuscript.

Compliance with ethical standards

Conflict of interest

B.H.P. is a member of the scientific advisory boards of Horizon Discovery, LTD, and Loxo Oncology, has ownership interest in Loxo Oncology, and has research contracts with Genomic Health, Inc. and Foundation Medicine, Inc. Under separate licensing agreements between Horizon Discovery, LTD, and The Johns Hopkins University, B.H.P. is entitled to a share of royalties received by the University on sales of products. The terms of this arrangement are being managed by the Johns Hopkins University, in accordance with its conflict of interest policies. D.C declares no potential conflicts.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.The Sidney Kimmel Comprehensive Cancer CenterThe Johns Hopkins University School of MedicineBaltimoreUSA
  2. 2.The Whiting School of Engineering, Department of Chemical and Biomolecular EngineeringThe Johns Hopkins UniversityBaltimoreUSA

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