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.
背景：染色体不稳定性（CIN）与克隆异质性（CH）是驱动乳腺癌演化、疾病进展及治疗耐药的核心特征。阐明这些现象背后的机制对于改善癌症诊断、预后评估及治疗策略至关重要。方法：本综述系统梳理了导致CIN与CH的生物学过程，重点阐述其分子决定因素及临床关联性。结果：我们探讨了包括单细胞测序在内的高分辨率检测技术的最新进展，这些技术显著提升了肿瘤内异质性的表征能力。同时，我们深入分析了CIN与CH如何影响治疗应答、作为治疗靶点的潜力，及其在塑造肿瘤免疫微环境中的作用——这对免疫治疗疗效具有重要影响。结论：通过整合最新研究进展，本文强调了CIN与CH对乳腺癌进展的影响，及其在精准医学转化应用中的重要意义。
肿瘤(癌症)患者之家