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精准医学推动肿瘤学的全面基因组分析。

Comprehensive genomic profiling for oncological advancements by precision medicine.

机构信息

Department of Medicine, Mount Sinai Hospital, Toronto, ON, Canada.

Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, ON, Canada.

出版信息

Med Oncol. 2023 Nov 22;41(1):1. doi: 10.1007/s12032-023-02228-x.

Abstract

Considerable advancements in next generation sequencing (NGS) techniques have sparked the use of comprehensive genomic profiling (CGP) as a guiding tool for precision-centered oncological treatments. The past two decades have seen the completion of the human genome project, and the consequential invention of NGS. High-throughput sequencing technologies support the discovery and commonplace use of individualized cancer treatments, specifically immune-centered checkpoint inhibitor therapies, and oncogene and tumor suppressor gene targeted therapies. Nevertheless, CGP is not commonly used in all clinical settings. This review investigates the clinically relevant applications of CGP. Studies published between the years 2000-2023 have shown substantial evidence of the benefits of integrating CGP into routine care practice, while also making important comparisons to current-standard oncological treatment strategies. Findings of a comprehensive genomic profile includes predictive, prognostic, and diagnostic biomarkers, together with somatic mutation identification which can indicate the efficacy of immunotherapies and molecularly guided therapies. This review highlights the importance of CGP in identifying driver mutations in tumors that subsequently can be effectively targeted with molecular therapeutics and lead to drug discovery, allowing for increased precision in treating tumors selectively based on their specific genetic mutations, thereby improving patient outcomes.

摘要

下一代测序 (NGS) 技术的重大进展促使综合基因组分析 (CGP) 成为精准肿瘤治疗的指导工具。过去二十年见证了人类基因组计划的完成,以及 NGS 的发明。高通量测序技术支持了个体化癌症治疗的发现和普及,特别是免疫检查点抑制剂治疗以及致癌基因和肿瘤抑制基因靶向治疗。然而,CGP 并非在所有临床环境中都得到广泛应用。本综述探讨了 CGP 的临床相关应用。2000 年至 2023 年间发表的研究表明,将 CGP 纳入常规护理实践具有重要意义,同时与当前的标准肿瘤治疗策略进行了重要比较。综合基因组分析的结果包括预测、预后和诊断生物标志物,以及体细胞突变识别,这可以指示免疫疗法和分子靶向疗法的疗效。本综述强调了 CGP 在识别肿瘤驱动突变方面的重要性,这些突变随后可以通过分子治疗进行有效靶向,并促进药物发现,从而根据肿瘤的特定遗传突变选择性地提高治疗肿瘤的精准度,从而改善患者的治疗效果。

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