Current understanding of extrachromosomal circular DNA in cancer pathogenesis and therapeutic resistance

• Published in: Journal of hematology and oncology Vol. 13; no. 1; pp. 124 - 16
• Main Authors: Yan, Yuanliang, Guo, Guijie, Huang, Jinzhou, Gao, Ming, Zhu, Qian, Zeng, Shuangshuang, Gong, Zhicheng, Xu, Zhijie
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 14.09.2020; BioMed Central; BMC
• Subjects: Biomarkers; Biosynthesis; Body Fluids - chemistry; Cancer; Cancer genetics; Cancer pathogenesis; Cell division; Chromosomes; Circular DNA; Clinical utility; Colorectal cancer; Deoxyribonucleic acid; Development and progression; Dihydrofolate reductase; DNA; DNA damage; DNA repair; DNA, Circular - analysis; DNA, Circular - genetics; DNA, Neoplasm - analysis; DNA, Neoplasm - genetics; DNA, Ribosomal - genetics; Drug Resistance, Neoplasm - genetics; ErbB Receptors - physiology; Extrachromosomal circular DNA; Extrachromosomal DNA; Extrachromosomal Inheritance; Gene Amplification; Gene Dosage; Gene expression; Gene Expression Regulation, Neoplastic - genetics; Genes; Genomes; Health aspects; Hematology; High-Throughput Nucleotide Sequencing; Humans; Image Processing, Computer-Assisted; In Situ Hybridization, Fluorescence; Kinases; Medical research; Mitochondrial DNA; Mutation; Neoplasm Proteins - physiology; Neoplasms - drug therapy; Neoplasms - etiology; Neoplasms - genetics; Oncogene amplification; Oncogenes; Oncology; Pathogenesis; Review; Telomere Homeostasis; Therapeutic resistance; Tumorigenesis; Biomarkers; Clinical utility; Extrachromosomal circular DNA; Therapeutic resistance; Cancer pathogenesis; Oncogene amplification
• ISSN: 1756-8722; 1756-8722
• DOI: 10.1186/s13045-020-00960-9

Extrachromosomal circular DNA was recently found to be particularly abundant in multiple human cancer cells, although its frequency varies among different tumor types. Elevated levels of extrachromosomal circular DNA have been considered an effective biomarker of cancer pathogenesis. Multiple reports have demonstrated that the amplification of oncogenes and therapeutic resistance genes located on extrachromosomal DNA is a frequent event that drives intratumoral genetic heterogeneity and provides a potential evolutionary advantage. This review highlights the current understanding of the extrachromosomal circular DNA present in the tissues and circulation of patients with advanced cancers and provides a detailed discussion of their substantial roles in tumor regulation. Confirming the presence of cancer-related extrachromosomal circular DNA would provide a putative testing strategy for the precision diagnosis and treatment of human malignancies in clinical practice.