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Promising member of the short interspersed nuclear elements (Alu elements): mechanisms and clinical applications in human cancers
  1. Yun Jiang1,2,
  2. Wei Zong1,2,
  3. Shaoqing Ju1,
  4. Rongrong Jing1,
  5. Ming Cui1
  1. 1 Department of Laboratory Medicine, Affiliated Hospital of Nantong University, Nantong, Jiangsu, China
  2. 2 Medical college, Nantong University, Nantong, Jiangsu, China
  1. Correspondence to Dr Rongrong Jing, Department of Laboratory Medicine, Affiliated Hospital of Nantong University, Nantong 226001, China; jrjr2020{at} and Professor Ming Cui, Department of Laboratory Medicine Affiliated Hospital of Nantong University, Nantong, Jiangsu, China; wscm163{at}


Alu elements are one of most ubiquitous repetitive sequences in human genome, which were considered as the junk DNA in the past. Alu 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, Alu elements are widely used as target molecule of liquid biopsy. Alu-based cell-free DNA shows feasible application value in tumour diagnosis, postoperative monitoring and adjuvant therapy. In this review, the special tumourigenesis mechanism of Alu elements in human cancers is discussed, and the application of Alu elements in various tumour liquid biopsy is summarised.

  • diagnosis
  • gene therapy
  • molecular genetics
  • oncogenesis
  • human cancer

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  • Contributors YJ implicated in all aspects of this review and cowrote the manuscript; WZ: creation of the figures and tables, revision of the manuscript draft; SJ: review conception; RJ: review conception and revision of manuscript draft; MC: review conception and revision of manuscript draft.

  • Funding This study was supported by the National Nature Science Foundation of China (Grant numbers 81201349, 81000775); Young medical key talents in Jiangsu province (Grant numbers QNRC 2016686, 2016687); Frontier and key technical innovation projects of Nantong (Grant number MS22015049) and Nantong Science and Technology Plan Project (MS12017008-3).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.