E-Book

E-Book 3rd Congress

  • Nanopore Sequencing for the Identification of Genetic Mutations in Cancer Patients
  • Yasaman Alirezaei,1,*
    1. Student of cellular and molecular biology at Gorgan Azad University


  • Introduction: Cancer is a complex disease characterized by the accumulation of genetic mutations that lead to uncontrolled cell growth and proliferation. The identification of these mutations is critical for the diagnosis, prognosis, and treatment of cancer patients. Traditional sequencing methods, such as Sanger sequencing and next-generation sequencing (NGS), have been widely used to identify cancer-associated mutations. However, these methods have limitations in terms of cost, scalability, and sensitivity. Nanopore sequencing is a promising new approach that offers several advantages over traditional methods, including real-time sequencing, high accuracy, and low cost. In this review, we will discuss recent advances in the use of nanopore sequencing for the identification of genetic mutations in cancer patients. The objectives of this review are to describe the principles of nanopore sequencing, to discuss recent studies that have used this technology to identify cancer-associated mutations, and to evaluate the potential advantages and limitations of nanopore sequencing for cancer research and clinical practice.
  • Methods: I conducted a comprehensive review of the literature on the use of nanopore sequencing for the identification of genetic mutations in cancer patients. We searched PubMed for relevant articles published in the last five years using the following search terms: "nanopore sequencing," "cancer," "genetic mutations," and "diagnosis." We also reviewed the reference lists of identified articles for additional relevant studies. Principles of nanopore sequencing: Nanopore sequencing is a single-molecule sequencing technology that uses a nanopore to detect changes in electrical current as DNA or RNA molecules pass through the pore. The nanopore is typically embedded in a membrane that separates two fluid compartments. A voltage is applied across the membrane, which creates an electrical field that drives the DNA or RNA molecules through the pore. As the molecules pass through the pore, changes in the electrical current are detected and recorded. These changes are then used to reconstruct the sequence of the DNA or RNA molecule. Recent studies using nanopore sequencing for cancer research: Several recent studies have demonstrated the potential of nanopore sequencing for the identification of cancer-associated mutations. For example, a study by Maura et al. (2019) used nanopore sequencing to identify mutations in chronic lymphocytic leukemia (CLL) patients. The authors found that nanopore sequencing had a high concordance with NGS and was able to detect additional mutations that were missed by NGS. Another study by Plesa et al. (2020) used nanopore sequencing to identify mutations in circulating tumor DNA (ctDNA) from patients with metastatic breast cancer. The authors found that nanopore sequencing had a high sensitivity and was able to detect mutations that were missed by other sequencing methods. Advantages and limitations of nanopore sequencing for cancer research: Nanopore sequencing offers several advantages over traditional sequencing methods for cancer research. First, nanopore sequencing is a real-time sequencing technology that allows for the rapid detection of mutations. This can be particularly useful in clinical settings where timely diagnosis and treatment are critical. Second, nanopore sequencing is a portable and scalable technology that can be used in a variety of settings. This makes it particularly useful for field studies and resource-limited settings. Third, nanopore sequencing has a high accuracy and can detect a wide range of mutation types, including single nucleotide variants, insertions, deletions, and structural variants.
  • Results: However, nanopore sequencing also has some limitations that need to be addressed. One limitation is the relatively high error rate of the technology, particularly for long reads. This can result in false positive and false negative results. Another limitation is the relatively low throughput of the technology, which can limit its application in large-scale studies. Finally, nanopore sequencing requires specialized equipment and expertise, which can limit its accessibility in some settings.
  • Conclusion: Nanopore sequencing is a promising new approach for the identification of genetic mutations in cancer patients. The technology offers several advantages over traditional sequencing methods, including real-time sequencing, high accuracy, and low cost. However, further studies are needed to optimize the technology and address its limitations. With continued progress, nanopore sequencing has the potential to become a valuable tool for cancer research and clinical practice.
  • Keywords: cancer, genetic mutations, nanopore sequencing, diagnosis, NGS