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Genetics and Genomics of Breast Cancer: update and translational perspectives
Seminars in Cancer Biology ( IF 14.5 ) Pub Date : 2020-04-04 , DOI: 10.1016/j.semcancer.2020.03.013
Michela Biancolella 1 , Barbara Testa 2 , Leila Baghernajad Salehi 3 , Maria Rosaria D'Apice 3 , Giuseppe Novelli 4
Affiliation  

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.



中文翻译:

乳腺癌的遗传学和基因组学:更新和转化观点

近年来,在评估个体基因组方面的快速科学创新使得能够识别与包括癌症在内的各种病理的发病、治疗和预后相关的变异,并对治疗反应的评估产生潜在影响。尽管对基因组信息的分析和解释被认为是不完整的,但在许多情况下,特定基因组谱的鉴定允许对以对药物治疗有更好反应为特征的患者亚组进行分层。在过去的 15 年中,个体基因组分析通过识别驱动肿瘤发展的选择性分子病变,显着改变了乳腺癌的诊断和治疗方法,表明每个肿瘤都有自己的基因组特征,具有一些特定特征和几个子类型共有的一些特征。已经(并且仍在)开发了几种个性化疗法,在治疗乳腺癌方面显示出显着的疗效。

更新日期:2020-04-04
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