Alsaiari Ahad Amer
Department of Clinical Laboratory Science, College of Applied Medical Science, Taif University, Taif, Saudi Arabia.
EXCLI J. 2025 Jan 3;24:15-33. doi: 10.17179/excli2024-7594. eCollection 2025.
Cancer is a major cause of death worldwide. Next-generation sequencing (NGS) has dramatically increased the sequencing data output and transformed biomedical investigations. NGS enables the generations of genetic data specific to patients from tumor tissue samples so that targeted therapies can be used. The obtained data further allows the prioritization of effective therapies based on the tumor-specific genotype. Practitioners in the field of clinical genomics can make the best use of testing facilities while lessening the possible off-targets by choosing a priori gene set. Therefore, targeted sequencing has arisen as a more affordable technique for the genomic profiling of tumors. Drug resistance is commonly observed in cancer because of mutations. Thus, precise genetic and molecular profiling of tumors ought to be routinely done prior to the use of targeted therapy or precision cancer therapy. NGS already has the capacity to ameliorate genetic screening in families with previous histories of the high occurrence of various cancer-associated genes, including and . By using NGS system, researchers detected increased variants in cancer cells with greater specificity and sensitivity than conventional diagnostic approaches, which suggest the potential of NGS in diagnosis. The field of precision cancer therapy is continuously growing and because of their specificity at the molecular level has improved the management and treatment of numerous cancers. These therapies are less toxic and more efficient compared to conventional chemotherapies used in cancer treatment. The field of precision cancer therapy is likely to significantly expand as NGS system advances. This review provides extensive information regarding current advances in the NGS field in terms of methods, clinical applications, genomic profiling, and the role of NGS of precision cancer therapy.
癌症是全球主要的死亡原因。下一代测序（NGS）极大地增加了测序数据输出，并改变了生物医学研究。NGS能够从肿瘤组织样本中生成特定于患者的基因数据，从而可以使用靶向治疗。所获得的数据还允许根据肿瘤特异性基因型对有效治疗进行优先级排序。临床基因组学领域的从业者可以充分利用检测设施，同时通过选择先验基因集来减少可能的脱靶效应。因此，靶向测序已成为一种更经济实惠的肿瘤基因组分析技术。由于突变，癌症中普遍观察到耐药性。因此，在使用靶向治疗或精准癌症治疗之前，应该常规地对肿瘤进行精确的基因和分子分析。NGS已经有能力改善有各种癌症相关基因高发生率家族史的遗传筛查，包括[具体基因1]和[具体基因2]。通过使用NGS系统，研究人员检测到癌细胞中变异的增加，其特异性和敏感性高于传统诊断方法，这表明NGS在诊断方面的潜力。精准癌症治疗领域正在不断发展，并且由于其在分子水平上的特异性，改善了多种癌症的管理和治疗。与用于癌症治疗的传统化疗相比，这些疗法毒性更小、效率更高。随着NGS系统的发展，精准癌症治疗领域可能会显著扩大。这篇综述提供了关于NGS领域在方法、临床应用、基因组分析以及NGS在精准癌症治疗中的作用方面的最新进展的广泛信息。
