Advanced medical technologies are transforming the future of healthcare, in particular, the screening and detection of molecular-genetic changes in patients suspected of having a neoplasm. They are based on the assumption that neoplasms release small amounts of various neoplasm- specific molecules, such as tumor DNA, called circulating DNA (cirDNA), into the extracellular space and subsequently into the blood. The detection of tumor-specific molecules and specific molecular changes in body fluids in a noninvasive or minimally invasive approach is known as “liquid biopsy.” The aim of this review is to summarize the current knowledge of the application of ONT for analyzing circulating DNA in the field of liquid biopsies among cancer patients. Databases were searched using the keywords “nanopore” and “liquid biopsy” and by applying strict inclusion criteria. This technique can be used for the detection of neoplastic disease, including metastases, guiding precision therapy, and monitoring its effects. There are many challenges, however, for the successful implementation of this technology into the clinical practice. The first one is the low amount of tumor-specific molecules in the body fluids. Secondly, a tumor molecular signature should be discriminated from benign conditions like clonal hematopoiesis of unknown significance. Oxford Nanopore Technology (ONT) is a third-generation sequencing technology that seems particularly promising to complete these tasks. It offers rapid sequencing thanks to its ability to detect changes in the density of the electric current passing through nanopores. Even though ONT still needs validation technology, it is a promising approach for early diagnosis, therapy guidance, and monitoring of different neoplasms based on analyzing the cirDNA.

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牛津纳米孔技术及其在液体活检中的应用

先进的医疗技术正在改变医疗保健的未来，特别是对疑似患有肿瘤的患者进行分子遗传变化的筛查和检测。它们基于这样的假设：肿瘤释放少量的各种肿瘤特异性分子，例如肿瘤DNA，称为循环DNA（cirDNA），进入细胞外空间，随后进入血液。以无创或微创方法检测肿瘤特异性分子和体液中特定分子变化被称为“液体活检”。本综述的目的是总结目前在癌症患者液体活检领域应用 ONT 分析循环 DNA 的知识。使用关键词“纳米孔”和“液体活检”并应用严格的纳入标准来搜索数据库。该技术可用于检测肿瘤疾病，包括转移、指导精准治疗并监测其效果。然而，将该技术成功应用于临床实践还面临许多挑战。第一个是体液中肿瘤特异性分子的含量低。其次，肿瘤分子特征应与良性病症（如意义不明的克隆造血）区分开来。牛津纳米孔技术（ONT）是第三代测序技术，似乎特别有希望完成这些任务。由于能够检测通过纳米孔的电流密度的变化，它可以提供快速测序。尽管 ONT 仍需要验证技术，但它是一种基于分析 circDNA 的早期诊断、治疗指导和监测不同肿瘤的有前途的方法。