Journal of Medical Genetics | 2019

Promising member of the short interspersed nuclear elements (Alu elements): mechanisms and clinical applications in human cancers

 
 
 
 
 

Abstract


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.

Volume 56
Pages 639 - 645
DOI 10.1136/jmedgenet-2018-105761
Language English
Journal Journal of Medical Genetics

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