关键词: biomarker breast cancer copy number alterations drug response tumor evolution tumor heterogeneity

Mesh : Humans Breast Neoplasms / genetics DNA Copy Number Variations Female Genome, Human Genomics / methods

来  源:   DOI:10.1016/j.molmed.2024.04.017

Abstract:
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.
摘要:
乳腺癌(BCa)是一种普遍的恶性肿瘤,主要影响世界各地的女性。体细胞拷贝数改变(CNA)是通常驱动BCa发育和治疗抗性的DNA片段的肿瘤特异性扩增或缺失。因此,CNA的复杂模式补充了BCa分类系统。此外,了解CNA的精确贡献对于定制个性化治疗方法至关重要。这篇综述强调了肿瘤进化如何驱动CNA的获取,这反过来又塑造了BCas的基因组景观。它还讨论了识别经常性CNAs的先进方法,研究BCa中的CNA及其临床影响。
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