摘要： 随着分子生物学、分子病理学、生物信息学和人工智能新技术的发展，乳腺癌的诊疗模式从最初的临床病理特征模式发展至具有标志性意义的分子分型模式，直至如今的精准个体化模式。“升阶”和“降阶”治疗使乳腺癌患者得到更加精准的治疗，但仍有一部分“特例”患者预后不佳。组学研究有望通过充分认识这些“特例”患者的特征，使其获得精准个体化治疗和预后。本文结合近年St.Gallen会议上“组学”相关内容与理念，综述了国内外乳腺癌基因组学、转录组学、蛋白组学、代谢组学、影像组学和整合多维组学领域中的重要研究成果，以及在临床转化中的应用，描绘了乳腺癌精准化个体治疗的发展与走向。

乳腺癌组学研究及临床转化应用进展

郑昂, 宇浩, 曹珺男, 金锋

中国医科大学附属第一医院乳腺外科, 沈阳 110001

收稿日期:2021-02-20出版日期:2021-07-30发布日期:2021-06-24
通讯作者:金锋E-mail:jinfeng@cmu.edu.cn
作者简介:郑昂(1993-),男,讲师,博士.
基金资助:国家自然科学基金（81773163，82073282）；中国博士后科学基金（2020M681018）


关键词: 乳腺癌, 多维组学, 个体化治疗, 多基因检测
Abstract: With the development of new technologies including molecular biology,molecular pathology,bioinformatics,and artificial intelligence,the diagnosis and treatment model for breast cancer has advanced from initial clinicopathological feature based methods to molecular typing methods,with landmark significance,and is currently further advancing to precise individualized methods. "Escalation" and "De-escalation" regimens have led to more precise treatments for breast cancer patients,but there remain a subset of "exceptional" patients who do not obtain an improved prognosis. Omics research is expected to fully elucidate the characteristics of these "exceptional" patients,rendering accurate individualized treatment and prognosis available to them. This paper reviews important research achievements in breast cancer genomics,transcriptomics,proteomics,metabolomics,imaging omics and integrative multidimensional omics at home and abroad,as well as their application to clinical transformations,and describes trends in development of precise individual therapies for breast cancer by presenting combined contents and concepts from the St. Gallen International Breast Cancer Conference.
Key words: breast cancer, multi-omics, individualized therapy, multigene profiling assays
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