Department of Laboratory Medicine, Affiliated Hospital of Nantong University, Nantong, Jiangsu, China.
Medical college, Nantong University, Nantong, Jiangsu, China.
J Med Genet. 2019 Oct;56(10):639-645. doi: 10.1136/jmedgenet-2018-105761. Epub 2019 Mar 9.
elements are one of most ubiquitous repetitive sequences in human genome, which were considered as the junk DNA in the past. elements have been found to be associated with human diseases including cancers via events such as amplification, insertion, recombination or RNA editing, which provide a new perspective of oncogenesis at both DNA and RNA levels. Due to the prevalent distribution, elements are widely used as target molecule of liquid biopsy. -based cell-free DNA shows feasible application value in tumour diagnosis, postoperative monitoring and adjuvant therapy. In this review, the special tumourigenesis mechanism of elements in human cancers is discussed, and the application of elements in various tumour liquid biopsy is summarised.
长散布重复元件是人类基因组中最普遍的重复序列之一,过去曾被认为是“垃圾 DNA”。现已发现长散布重复元件通过扩增、插入、重组或 RNA 编辑等事件与包括癌症在内的人类疾病相关,这为 DNA 和 RNA 水平的致癌作用提供了新的视角。由于广泛分布,长散布重复元件被广泛用作液体活检的靶分子。基于细胞游离 DNA 的液体活检在肿瘤诊断、术后监测和辅助治疗中具有可行的应用价值。本文讨论了长散布重复元件在人类癌症中的特殊致癌机制,并总结了长散布重复元件在各种肿瘤液体活检中的应用。