Genetic profiling of cancer with circulating tumor DNA analysis

作     者：Ling Lu Junqin Bi Liming Bao 

作者机构：Department of Rheumatology Huashan HospitalFudan University Center for Clinical Molecular Medicine Children's Hospital of Chongqing Medical University Department of Pathology and Laboratory Medicine Dartmouth-Hitchcock Medical Center and Geisel School of Medicine at Dartmouth College 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2018年第45卷第2期

页      面：79-85页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100214[医学-肿瘤学] 10[医学] 

主　　题：ctDNA Cancer genetics Genetic profile Liquid biopsy Precision therapy 

摘      要：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.