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D’Amico et al. J Cancer Metastasis Treat 2021;7:3 Journal of Cancer
DOI: 10.20517/2394-4722.2020.93 Metastasis and Treatment

Review Open Access

The use of liquid biopsy in early breast cancer:
clinical evidence and future perspectives

Paolo D’Amico 1,2,3 , Carla Corvaja , Lorenzo Gerratana 1,4,5,6 , Carolina Reduzzi , Giuseppe Curigliano ,
4,5
1
2,3
Massimo Cristofanilli 1
1 Division of Hematology and Oncology, Department of Medicine, Northwestern University Feinberg School of Medicine,
Chicago, IL 60611, USA.
2 Division of Early Drug Development for Innovative Therapies, IEO, European Institute of Oncology IRCCS, Milan 20132, Italy.
3 Department of Oncology and Hemato-Oncology, University of Milano, Milan 20122, Italy.
4 Department of Oncology, ASUFC, University Hospital of Udine, Udine 33100, Italy.
5 Department of Medicine, University of Udine, Udine 33100, Italy.
6 Department of Medical Oncology, Centro di Riferimento Oncologico (CRO), IRCCS, Pordenone 33081, Italy.

Correspondence to: Dr. Paolo D’Amico, Division of Hematology and Oncology, Department of Medicine, Northwestern University
Feinberg School of Medicine, 420 E Superior St., Chicago, IL 60611, USA. E-mail: paolodam@gmail.com

How to cite this article: D’Amico P, Corvaja C, Gerratana L, Reduzzi C, Curigliano G, Cristofanilli M. The use of liquid biopsy in
early breast cancer: clinical evidence and future perspectives. J Cancer Metastasis Treat 2021;7:3.
http://dx.doi.org/10.20517/2394-4722.2020.93

Received: 1 Sep 2020 First Decision: 22 Oct 2020 Revised: 23 Oct 2020 Accepted: 15 Dec 2020 Published: 7 Jan 2021

Academic Editor: Wei Zhang Copy Editor: Miao Zhang Production Editor: Jing Yu

Abstract
Liquid biopsy, including both circulating tumor cells and circulating tumor DNA, is gaining momentum as a
diagnostic modality adopted in the clinical management of breast cancer. Prospective studies testing several
technologies demonstrated clinical validity and, in some cases, achieved the United States Food and Drug
Administration approval. The initial testing and clinical application of liquid biopsy focused primarily on the
diagnosis, while molecular characterization and monitoring of metastatic disease, with larger data from prospective
studies, came in the last two decades. Although its role in metastatic setting is thus widely recognized, the current
evidence does not provide support for the routine clinical use of liquid biopsy methods for the earlier stage of this
disease. Considering the relevance of early detection, characterization, and management of breast cancer in the
early-stage, this clinical setting is the most suitable to increase the chances for effective treatment selection and
improved prognosis, and a better understanding of the main application of liquid biopsy tools in the earlier stage
of breast cancer is therefore crucial. The aim of this review is to provide an overview of the clinical evidence and
subsequent potential applications of liquid biopsy in early breast cancer, identifying the main existing caveats and
the possible future scenarios.

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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