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

Trends Mol Med. 2024 May 20:S1471-4914(24)00120-5. doi: 10.1016/j.molmed.2024.04.017. Online ahead of print.


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.

Keywords: biomarker; breast cancer; copy number alterations; drug response; tumor evolution; tumor heterogeneity.

Publication types

  • Review