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肿瘤临床实践中的基因组分析

Genomic profiling in oncology clinical practice.

作者信息

Rodríguez N, Viñal D, Rodríguez-Cobos J, De Castro J, Domínguez G

机构信息

Department of Medical Oncology, Hospital Universitario La Paz, Catedra UAM-Medicina de Innovación, Madrid, Spain.

Department of Medical Oncology, Hospital Universitario La Paz, Madrid, Spain.

出版信息

Clin Transl Oncol. 2020 Sep;22(9):1430-1439. doi: 10.1007/s12094-020-02296-9. Epub 2020 Jan 24.

Abstract

The development of high-throughput technologies such as next-generation sequencing for DNA sequencing together with the decrease in their cost has led to the progressive introduction of genomic profiling in our daily practice in oncology. Nowadays, genomic profiling is part of genetic counseling, cancer diagnosis, molecular characterization, and as a biomarker of prognosis and response to treatment. Furthermore, germline or somatic genomic characterization of the tumor may provide new treatment opportunities for patients with cancer. In this review, we will summarize the clinical applications and limitations of genomic profiling in oncology clinical practice, focusing on next-generation sequencing.

摘要

诸如用于DNA测序的新一代测序等高通量技术的发展及其成本的降低,已促使基因组分析在肿瘤学日常实践中逐步得到应用。如今,基因组分析已成为遗传咨询、癌症诊断、分子特征分析的一部分,并且作为预后和治疗反应的生物标志物。此外,肿瘤的种系或体细胞基因组特征分析可为癌症患者提供新的治疗机会。在本综述中,我们将总结基因组分析在肿瘤学临床实践中的临床应用和局限性,重点关注新一代测序。

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