The promising role of nanopore sequencing in cancer diagnostics and treatment

• Published in: Cell insight 2025-04, Vol.4 (2), p.100229, Article 100229
• Main Authors: Su, Xinming, Lin, Qingyuan, Liu, Bin, Zhou, Chuntao, Lu, Liuyi, Lin, Zihao, Si, Jiahua, Ding, Yuemin, Duan, Shiwei
• Format: Article
• Language: English
• Subjects: Cancer; Genomics; Microbiome; Nanopore sequencing; Transcriptomics
• ISSN: 2772-8927; 2772-8927
• DOI: 10.1016/j.cellin.2025.100229

Cancer arises from genetic alterations that impact both the genome and transcriptome. The utilization of nanopore sequencing offers a powerful means of detecting these alterations due to its unique capacity for long single-molecule sequencing. In the context of DNA analysis, nanopore sequencing excels in identifying structural variations (SVs), copy number variations (CNVs), gene fusions within SVs, and mutations in specific genes, including those involving DNA modifications and DNA adducts. In the field of RNA research, nanopore sequencing proves invaluable in discerning differentially expressed transcripts, uncovering novel elements linked to transcriptional regulation, and identifying alternative splicing events and RNA modifications at the single-molecule level. Furthermore, nanopore sequencing extends its reach to detecting microorganisms, encompassing bacteria and viruses, that are intricately associated with tumorigenesis and the development of cancer. Consequently, the application prospects of nanopore sequencing in tumor diagnosis and personalized treatment are expansive, encompassing tasks such as tumor identification and classification, the tailoring of treatment strategies, and the screening of prospective patients. In essence, this technology stands poised to unearth novel mechanisms underlying tumorigenesis while providing dependable support for the diagnosis and treatment of cancer.