Ann Lab Med 2018; 38(1): 1-8
Cell-Free DNA in Oncology: Gearing up for Clinic
Bryan C. Ulrich, B.A.1,2 and Cloud P. Paweletz, Ph.D.1,2
Department of Medical Oncology1, Dana-Farber Cancer Institute, Boston, MA; Belfer Center for Applied Cancer Science2, Dana-Farber Cancer Institute, Boston, MA, USA
Corresponding author: Cloud P. Paweletz
Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, USA 02215
Tel: +1-617-582-7602
Received: July 2, 2017; Revised: August 9, 2017; Accepted: September 21, 2017; Published online: January 1, 2018.
© Korean Society for Laboratory Medicine. All rights reserved.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
In the past several years, interest in the clinical utility of cell-free DNA as a noninvasive cancer biomarker has grown rapidly. Success in the development of plasma genotyping assays and other liquid biopsy assays has widened the scope of cell-free DNA use in research and the clinic. Already approved by the US Food and Drug Administration in the narrow context of epidermal growth factor receptor-mutated non-small cell lung cancer, plasma genotyping assays are currently being investigated in a wide array of clinical settings and modalities. These include plasma genotyping as a tool for early diagnosis, the detection of minimal residual disease, and the evaluation of treatment response/progression. In this review, we assess the clinical landscape of plasma genotyping assays and propose strategies for their further expansion into routine clinical care.
Keywords: Liquid biopsy, Cell-free DNA, Plasma genotyping, Non-invasive biomarkers, Clinical trials

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