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首页> 外文期刊>Cancer Cell >Genomic and transcriptional aberrations linked to breast cancer pathophysiologies.
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Genomic and transcriptional aberrations linked to breast cancer pathophysiologies.

机译：基因组和转录异常与乳腺癌的病理生理学有关。

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摘要

This study explores the roles of genome copy number abnormalities (CNAs) in breast cancer pathophysiology by identifying associations between recurrent CNAs, gene expression, and clinical outcome in a set of aggressively treated early-stage breast tumors. It shows that the recurrent CNAs differ between tumor subtypes defined by expression pattern and that stratification of patients according to outcome can be improved by measuring both expression and copy number, especially high-level amplification. Sixty-six genes deregulated by the high-level amplifications are potential therapeutic targets. Nine of these (FGFR1, IKBKB, ERBB2, PROCC, ADAM9, FNTA, ACACA, PNMT, and NR1D1) are considered druggable. Low-level CNAs appear to contribute to cancer progression by altering RNA and cellular metabolism.
机译：这项研究通过确定一组积极治疗的早期乳腺肿瘤中复发性CNA，基因表达和临床结果之间的关联，探索了基因组拷贝数异常（CNA）在乳腺癌病理生理中的作用。结果表明，复发性CNA在表达模式所定义的肿瘤亚型之间有所不同，并且通过测量表达和拷贝数，尤其是高水平扩增，可以改善根据结果对患者的分层。被高水平扩增解除调控的66个基因是潜在的治疗靶标。其中9种（FGFR1，IKBKB，ERBB2，PROCC，ADAM9，FNTA，ACACA，PNMT和NR1D1）被视为可药物治疗。低水平的CNA似乎通过改变RNA和细胞代谢来促进癌症进展。

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