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Genetic profiling of cancer with circulating tumor DNA analysis
Authors:Ling Lu  Junqin Bi  Liming Bao
Institution:1. Department of Rheumatology, Huashan Hospital, Fudan University, Shanghai 200032, China;2. Center for Clinical Molecular Medicine, Children''s Hospital of Chongqing Medical University, Chongqing 400065, China;3. Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center and Geisel School of Medicine at Dartmouth College, Lebanon, NH 03756, USA
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:ctDNA  Cancer genetics  Genetic profile  Liquid biopsy  Precision therapy
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