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Cancer DNA in the CirculationThe Liquid Biopsy

Educational Objective
To understand technology used for establishing diagnoses based on analysis of circulating DNA.
1 Credit CME

Targeted therapies for cancer have changed treatment approaches for several solid tumor malignancies. Analyses of cell-free circulating tumor DNA (ctDNA) enable noninvasive cancer detection and characterization, prediction of treatment response, monitoring of disease relapse, and identification of mechanisms of resistance to targeted therapies. With newer technologies, the sensitivity and specificity of ctDNA detection assays have improved and facilitate a greater role for ctDNA diagnostics in clinical practice (Figure).

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Article Information

Corresponding Author: Victor E. Velculescu, MD, PhD, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 1550 Orleans St, Room 544, Baltimore, MD 21287 (velculescu@jhmi.edu).

Conflict of Interest Diclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Husain reports participation on clinical advisory boards for Foundation Medicine, Abbvie, and AstraZeneca; a grant from Pfizer; and lecture honoraria from Bristol-Myers Squibb, Merck, and AstraZeneca. Dr Velculescu reports scientific advisory board and board of directors membership, stock ownership (subject to certain restrictions under university policy), and being a founder of Personal Genome Diagnostics; and being a member of the Ignyta scientific advisory board. The terms of these arrangements are managed by the Johns Hopkins University in accordance with its conflict of interest policies.

Funding/Support: This work was supported by the following grants (Velculescu): National Institutes of Health (CA121113, CA006973, CA180950), Commonwealth Foundation, Dr Miriam and Sheldon G. Adelson Medical Research Foundation, and SU2C-DCS International Translational Cancer Research Dream Team (Stand Up To Cancer, a program of the Entertainment Industry Foundation administered by the American Association for Cancer Research) (SU2C-AACR-DT1415).

References
1.
Mandel  P, Metais  P.  Les acides nucléiques du plasma sanguin chez l'homme.  C R Seances Soc Biol Fil. 1948;142(3-4):241-243.PubMedGoogle Scholar
2.
Sidransky  D.  Nucleic acid-based methods for the detection of cancer.  Science. 1997;278(5340):1054-1059.PubMedGoogle ScholarCrossref
3.
Kinde  I, Wu  J, Papadopoulos  N, Kinzler  KW, Vogelstein  B.  Detection and quantification of rare mutations with massively parallel sequencing.  Proc Natl Acad Sci U S A. 2011;108(23):9530-9535.PubMedGoogle ScholarCrossref
4.
Newman  AM, Bratman  SV, To  J,  et al.  An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage.  Nat Med. 2014;20(5):548-554.PubMedGoogle ScholarCrossref
5.
Phallen  J, Sausen  M, Adleff  V,  et al Direct detection of early-stage cancers using circulating tumor DNA.  Sci Transl Med. 2017;9(403), eaan2415.PubMedGoogle ScholarCrossref
6.
Evans  JP, Powell  BC, Berg  JS.  Finding the rare pathogenic variants in a human genome.  JAMA. 2017;317(18):1904-1905.PubMedGoogle ScholarCrossref
7.
Leary  RJ, Sausen  M, Kinde  I,  et al.  Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing.  Sci Transl Med. 2012;4(162):162ra154.PubMedGoogle ScholarCrossref
8.
Vogelstein  B, Kinzler  KW.  Digital PCR.  Proc Natl Acad Sci U S A. 1999;96(16):9236-9241.PubMedGoogle ScholarCrossref
9.
Oxnard  GR, Paweletz  CP, Kuang  Y,  et al.  Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA.  Clin Cancer Res. 2014;20(6):1698-1705.PubMedGoogle ScholarCrossref
10.
US Food and Drug Administration. Cobas EGFR mutation test v2-P150047. https://www.fda.gov/drugs/informationondrugs/approveddrugs/ucm504540.htm. Accessed September 17, 2017.
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