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Review
. 2018 Feb 20;45(2):79-85.
doi: 10.1016/j.jgg.2017.11.006. Epub 2018 Feb 5.

Genetic profiling of cancer with circulating tumor DNA analysis

Ling Lu  1 , Junqin Bi  2 , Liming Bao  3
Affiliations
Review

Genetic profiling of cancer with circulating tumor DNA analysis

Ling Lu et al. J Genet Genomics. .

Abstract

Circulating cell-free tumor DNA (ctDNA) in the blood is DNA released from apoptotic, circulating, and living tumor cells. ctDNA is about 140 nt in length and has a half-life of about 1.5 h. ctDNA analysis provides a noninvasive means to assess the genetic profile of cancer in real time. With the advent of molecular technologies, including digital PCR and massively parallel sequencing (MPS), ctDNA analysis has shown promise as a highly sensitive and specific alternative to conventional tissue biopsy in cancer detection, longitudinal monitoring, and precision therapy. This review provides an overview of the latest development in our understanding of the biologic characteristics, detection methodologies, and potential clinical implications of ctDNA, as well as the challenges in translating ctDNA analysis from the research arena to patient care.

Keywords: Cancer genetics; Genetic profile; Liquid biopsy; Precision therapy; ctDNA.

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