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Chromosomal Instability and Clonal Heterogeneity in Breast Cancer: From Mechanisms to Clinical Applications

  • María Paula Meléndez-Flórez
  • , Oscar Ortega-Recalde
  • , Nelson Rangel
  • , Milena Rondón-Lagos
  • Universidad Nacional de Colombia
  • Instituto Nacional de Cancerología - Colombia
  • Universidad Pedagógica y Tecnológica de Colombia

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Background: Chromosomal instability (CIN) and clonal heterogeneity (CH) are fundamental hallmarks of breast cancer that drive tumor evolution, disease progression, and therapeutic resistance. Understanding the mechanisms underlying these phenomena is essential for improving cancer diagnosis, prognosis, and treatment strategies. Methods: In this review, we provide a comprehensive overview of the biological processes contributing to CIN and CH, highlighting their molecular determinants and clinical relevance. Results: We discuss the latest advances in detection methods, including single-cell sequencing and other high-resolution techniques, which have enhanced our ability to characterize intratumoral heterogeneity. Additionally, we explore how CIN and CH influence treatment responses, their potential as therapeutic targets, and their role in shaping the tumor immune microenvironment, which has implications for immunotherapy effectiveness. Conclusions: By integrating recent findings, this review underscores the impact of CIN and CH on breast cancer progression and their translational implications for precision medicine.

Original languageEnglish
Article number1222
JournalCancers
Volume17
Issue number7
DOIs
StatePublished - Apr 2025

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • aneuploidy
  • breast cancer
  • chromosomal instability
  • clonal heterogeneity
  • gene expression
  • single-cell sequencing

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