The Applications of Plasma Cell-free DNA in Cancer Detection: Implications in the Management of Breast Cancer Patients.
The Applications of Plasma Cell-free DNA in Cancer Detection: Implications in the Management of Breast Cancer Patients.
复制标题
DOI：
10.1016/j.critrevonc.2022.103725
复制
发表时间：
2022-05
期刊：
影响因子：
--
通讯作者：
F. Igari;Hisashi Tanaka;A. Giuliano
中科院分区：
文献类型：
--
作者：
F. Igari;Hisashi Tanaka;A. Giuliano
液体活检探测体液中的DNA、RNA和蛋白质，用于癌症检测，是肿瘤学发展最快的领域之一。在血液中的无细胞DNA（cfDNA）的背景下，肿瘤衍生的DNA（循环肿瘤DNA，ctDNA）已经成为其在癌症检测中的潜在用途的主要靶标。液体活检可以实时报告肿瘤负荷而无需侵入性干预，并且对于筛查缺乏标准护理筛查方法的肿瘤类型是可行的。询问ctDNA的两种主要方法是基因突变和DNA甲基化谱。突变谱可以识别肿瘤驱动突变并指导精确治疗。DNA甲基化的靶向基因组分析已成为一般人群中癌症筛查的主要方法。在这里，我们回顾了最近的技术发展和正在进行的努力，在临床应用。对于临床应用，我们专注于乳腺癌，其中亚型特异性生物学划分ctDNA的应用。
Liquid biopsy probes DNA, RNA, and proteins in body fluids for cancer detection and is one of the most rapidly developing areas in oncology. Tumor-derived DNA (circulating tumor DNA, ctDNA) in the context of cell-free DNA (cfDNA) in blood has been the main target for its potential utilities in cancer detection. Liquid biopsy can report tumor burden in real-time without invasive interventions, and would be feasible for screening tumor types that lack standard-of-care screening approaches. Two major approaches to interrogating ctDNA are genetic mutation and DNA methylation profiling. Mutation profiling can identify tumor driver mutations and guide precision therapy. Targeted genomic profiling of DNA methylation has become the main approach for cancer screening in the general population. Here we review the recent technological development and ongoing efforts in clinical applications. For clinical applications, we focus on breast cancer, in which subtype-specific biology demarcates the applications of ctDNA.