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Circulating tumor DNA and liquid biopsy in oncology

Nature Cancer volume 1, pages 276–290 (2020)Cite this article

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Abstract

Techniques for analyzing circulating tumor DNA (ctDNA) to detect, characterize and monitor cancer have matured rapidly. An increasing body of clinical evidence is demonstrating the capabilities of this technology as a diagnostic test. The full potential of ctDNA liquid biopsy in the diagnosis, characterization and management of solid and hematological malignancies will be uncovered through interventional clinical trials evaluating clinical utility. In this Review, we discuss the current landscape of ctDNA liquid-biopsy applications across the cancer continuum and highlight opportunities for clinical investigation.

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Fig. 1: Features of ctDNA and potential issues for liquid-biopsy testing in oncology.
Fig. 2: Applications of ctDNA liquid biopsy in the recurrent and/or metastatic setting.
Fig. 3: Evaluation of ctDNA in the setting of MRD.
Fig. 4: ctDNA screening for pre-cancer diagnosis and monitoring.

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Authors and Affiliations

  1. Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Canada

    David W. Cescon, Steven M. Chan & Lillian L. Siu

  2. Department of Radiation Oncology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Canada

    Scott V. Bratman

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Correspondence to Lillian L. Siu.

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Competing interests

D.W.C. provides consultation for Agendia, AstraZeneca, GlaxoSmithKline, Merck, Novartis, Pfizer, Puma, Roche and Dynamo Therapeutics; receives research support (institutional) from GlaxoSmithKline, Merck and Pfizer; and (intellectual property) is a co-inventor on a patent related to biomarkers for TTK inhibitors (assigned to University Health Network). S.V.B. provides consultation for Bristol-Myers Squibb; receives research support from Nektar Therapeutics; and (intellectual property) is a co-inventor on a patent relating to circulating tumor DNA-mutation detection technology (PCT/US2014/02502; licensed to Roche Molecular Diagnostics) and on a patent application relating to ctDNA methylation analysis technology (PCT/CA2018/000203). S.M.C. receives honoraria from Celgene and Agios; and receives research support from Celgene, Agios and AbbVie Pharmaceuticals. L.L.S. provides consultation for Merck (compensated), Pfizer (compensated), Celgene (compensated), AstraZeneca/Medimmune (compensated), Morphosys (compensated), Roche (compensated), GeneSeeq (compensated), Loxo (compensated), Oncorus (compensated), Symphogen (compensated), Seattle Genetics (compensated), GlaxoSmithKline (compensated), Voronoi (compensated), Treadwell Therapeutics (compensated), Arvinas (compensated), Tessa (compensated), Navire (compensated); receives research support (institutional) from Novartis, Bristol-Myers Squibb, Pfizer, Boerhinger-Ingelheim, GlaxoSmithKline, Roche/Genentech, Karyopharm, AstraZeneca/Medimmune, Merck, Celgene, Astellas, Bayer, Abbvie, Amgen, Symphogen, Intensity Therapeutics, Mirati, Shattucks and Avid; and is a stockholder in Agios (spouse), Treadwell Therapeutics (spouse).

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Cescon, D.W., Bratman, S., Chan, S.M. et al. Circulating tumor DNA and liquid biopsy in oncology. Nat Cancer 1, 276–290 (2020). https://doi.org/10.1038/s43018-020-0043-5

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