拷贝数改变：乳腺癌基因组的灾难性编排。

IF 12.8 1区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Trends in molecular medicine Pub Date : 2024-08-01 Epub Date: 2024-05-20 DOI:10.1016/j.molmed.2024.04.017

Parastoo Shahrouzi, Farzaneh Forouz, Anthony Mathelier, Vessela N Kristensen, Pascal H G Duijf

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引用次数: 0

摘要

乳腺癌（BCa）是一种常见的恶性肿瘤，主要影响世界各地的妇女。体细胞拷贝数改变（CNA）是肿瘤特异性的DNA片段扩增或缺失，通常会导致乳腺癌的发展和耐药性。因此，CNAs 的复杂模式是 BCa 分类系统的补充。此外，了解 CNAs 的确切贡献对于定制个性化治疗方法至关重要。本综述重点介绍了肿瘤进化如何驱动 CNAs 的获得，进而塑造 BCa 的基因组图谱。它还讨论了识别复发性 CNA、研究 BCa 中的 CNA 及其临床影响的先进方法。

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Copy number alterations: a catastrophic orchestration of the breast cancer genome.

Breast cancer (BCa) is a prevalent malignancy that predominantly affects women around the world. Somatic copy number alterations (CNAs) are tumor-specific amplifications or deletions of DNA segments that often drive BCa development and therapy resistance. Hence, the complex patterns of CNAs complement BCa classification systems. In addition, understanding the precise contributions of CNAs is essential for tailoring personalized treatment approaches. This review highlights how tumor evolution drives the acquisition of CNAs, which in turn shape the genomic landscapes of BCas. It also discusses advanced methodologies for identifying recurrent CNAs, studying CNAs in BCa and their clinical impact.

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来源期刊

Trends in molecular medicine 医学-生化与分子生物学

CiteScore

24.60

自引率

0.00%

发文量

142

审稿时长

6-12 weeks

期刊介绍： Trends in Molecular Medicine (TMM) aims to offer concise and contextualized perspectives on the latest research advancing biomedical science toward better diagnosis, treatment, and prevention of human diseases. It focuses on research at the intersection of basic biology and clinical research, covering new concepts in human biology and pathology with clear implications for diagnostics and therapy. TMM reviews bridge the gap between bench and bedside, discussing research from preclinical studies to patient-enrolled trials. The major themes include disease mechanisms, tools and technologies, diagnostics, and therapeutics, with a preference for articles relevant to multiple themes. TMM serves as a platform for discussion, pushing traditional boundaries and fostering collaboration between scientists and clinicians. The journal seeks to publish provocative and authoritative articles that are also accessible to a broad audience, inspiring new directions in molecular medicine to enhance human health.