基于下一代测序技术的乳腺癌生物标志物

Next-Generation Sequencing-Based Biomarkers in Breast Cancer.

作者信息

Han Wonshik, Lim Woosung

机构信息

Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea.

Biomedical Research Institute, Seoul National University Hospital, Seoul, South Korea.

出版信息

Adv Exp Med Biol. 2021;1187:323-335. doi: 10.1007/978-981-32-9620-6_16.

DOI:10.1007/978-981-32-9620-6_16

PMID:33983586

Abstract

For the realization of precision medicine in cancer treatment, discovery, and validation of clinically useful biomarker is the most important prerequisite. Biomarkers are needed and used for evaluation of cancer susceptibility, cancer screening (early detection), cancer subtyping, prediction of prognosis, decision of appropriate adjuvant therapy and duration of therapy, and for monitoring of recurrence. Biomarkers are also needed for decision of target therapy in metastatic cancer and monitoring of their response during follow-up. Now is the era of Next-Generation Sequencing (NGS). NGS technology can detect almost all kind of genomic changes that occur in cancer that is different from normal condition. The cost also is now reasonably low to use in routine clinical practice.This chapter will review four kinds of NGS-based biomarkers that are already being used in clinical practice although the routine use is controversial, and that are promising and under active investigation focusing on studies done in Seoul National University Hospital (SNUH).

摘要

为了在癌症治疗中实现精准医疗，发现并验证具有临床实用性的生物标志物是最重要的前提条件。生物标志物对于评估癌症易感性、癌症筛查（早期检测）、癌症亚型分类、预后预测、确定合适的辅助治疗及治疗时长以及监测复发情况而言都是必需且有用的。在转移性癌症的靶向治疗决策以及随访期间监测其反应时，也需要生物标志物。现在是下一代测序（NGS）的时代。NGS技术能够检测出癌症中几乎所有不同于正常情况的基因组变化。而且现在其使用成本在常规临床实践中也相当低。本章将回顾四种基于NGS的生物标志物，尽管其常规使用存在争议，但它们已在临床实践中得到应用，并且前景广阔且正在积极研究中，重点关注首尔国立大学医院（SNUH）所开展的研究。