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乳腺癌的遗传学和基因组学:最新进展和转化研究视角。

Genetics and Genomics of Breast Cancer: update and translational perspectives.

机构信息

Department of Biology, Tor Vergata University of Rome, 00133, Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133, Rome, Italy.

出版信息

Semin Cancer Biol. 2021 Jul;72:27-35. doi: 10.1016/j.semcancer.2020.03.013. Epub 2020 Apr 4.

Abstract

In the recent years the rapid scientific innovation in the evaluation of the individual's genome have allowed the identification of variants associated with the onset, treatment and prognosis of various pathologies including cancer, and with a potential impact in the assessment of therapy responses. Despite the analysis and interpretation of genomic information is considered incomplete, in many cases the identification of specific genomic profile has allowed the stratification of subgroups of patients characterized by a better response to drug therapies. Individual genome analysis has changed profoundly the diagnostic and therapeutic approach of breast cancer in the last 15 years by identifying selective molecular lesions that drive the development of neoplasms, showing that each tumor has its own genomic signature, with some specific features and some features common to several sub-types. Several personalized therapies have been (and still are being) developed showing a remarkable efficacy in the treatment of breast cancer.

摘要

近年来,个体基因组评估方面的快速科学创新,使得与各种疾病(包括癌症)的发病、治疗和预后相关的变异体得以鉴定,并可能对治疗反应评估产生影响。尽管分析和解释基因组信息被认为是不完整的,但在许多情况下,确定特定的基因组特征,使得能够对药物治疗反应更好的患者亚组进行分层。在过去的 15 年中,通过鉴定驱动肿瘤发生的选择性分子病变,个体基因组分析彻底改变了乳腺癌的诊断和治疗方法,表明每个肿瘤都有其自身的基因组特征,具有一些特定的特征和一些几种亚型共有的特征。已经(并且仍在)开发几种个性化疗法,在治疗乳腺癌方面显示出显著的疗效。

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