Recent advances in the methods and clinical applications of next-generation sequencing in genomic profiling and precision cancer therapy.

IF 4.9 3区 生物学 Q1 BIOLOGY
EXCLI Journal Pub Date : 2025-01-03 eCollection Date: 2025-01-01 DOI:10.17179/excli2024-7594
Ahad Amer Alsaiari
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Abstract

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 TP53, APC, BRCA2, and BRCA1. 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.

新一代测序技术在基因组分析和癌症精准治疗中的应用进展。
癌症是世界范围内死亡的主要原因。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获得针对患者的遗传数据,从而可以使用靶向治疗。获得的数据进一步允许基于肿瘤特异性基因型的有效治疗的优先级。临床基因组学领域的从业者可以充分利用检测设备,同时通过选择先验基因集减少可能的脱靶。因此,靶向测序已经成为一种更经济实惠的肿瘤基因组分析技术。由于突变,耐药性在癌症中很常见。因此,在使用靶向治疗或精确癌症治疗之前,应该常规地进行肿瘤的精确遗传和分子谱分析。NGS已经有能力改善具有各种癌症相关基因(包括TP53、APC、BRCA2和BRCA1)高发病史的家庭的遗传筛查。通过使用NGS系统,研究人员以比传统诊断方法更高的特异性和敏感性检测到癌细胞中增加的变异,这表明NGS在诊断中的潜力。精密癌症治疗领域正在不断发展,由于其在分子水平上的特异性,已经改善了许多癌症的管理和治疗。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,癌症精准治疗领域将大幅扩大。本文综述了NGS在方法、临床应用、基因组分析以及NGS在精确癌症治疗中的作用等方面的最新进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
EXCLI Journal
EXCLI Journal BIOLOGY-
CiteScore
8.00
自引率
2.20%
发文量
65
审稿时长
6-12 weeks
期刊介绍: EXCLI Journal publishes original research reports, authoritative reviews and case reports of experimental and clinical sciences. The journal is particularly keen to keep a broad view of science and technology, and therefore welcomes papers which bridge disciplines and may not suit the narrow specialism of other journals. Although the general emphasis is on biological sciences, studies from the following fields are explicitly encouraged (alphabetical order): aging research, behavioral sciences, biochemistry, cell biology, chemistry including analytical chemistry, clinical and preclinical studies, drug development, environmental health, ergonomics, forensic medicine, genetics, hepatology and gastroenterology, immunology, neurosciences, occupational medicine, oncology and cancer research, pharmacology, proteomics, psychiatric research, psychology, systems biology, toxicology
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