Emerging Approaches in Breast Cancer: From Molecular Mechanisms to Diagnosis and Therapeutic Strategies

Abstract

Breast cancer (BC) is the most frequently diagnosed malignancy in women worldwide and remains one of the leading causes of cancer-related mortality, with substantial international disparities in incidence, stage at diagnosis, access to treatment, and survival. In recent years, BC management has evolved rapidly through advances in molecular characterization, imaging, pathology, targeted therapies, immunotherapy, and survivorship care. Nevertheless, important gaps persist in early and accurate detection, biomarker standardization, equitable access to care, and patient-specific treatment selection. These advances require timely, evidence-based, and context-specific clinical frameworks to support appropriate implementation, and to avoid the use of costly interventions with limited or uncertain clinical benefit and/or low-impact therapies with no clear therapeutic value. This review aims to provide a comprehensive overview of the molecular pathogenesis of BC and to synthesize current advances across diagnosis, therapeutic strategies, and clinical implementation. We examine liquid biopsy (ctDNA/circulating tumor cells) for early detection and minimal residual disease monitoring, alongside the transformative role of multi-omic molecular profiling and artificial intelligence (AI). Therapeutic section covers different options of treatments, from standard therapies to specific targeted therapies (e.g., human epidermal growth factor receptor (HER2-), DNA damage repair–, and cell-cycle–directed agents). We also address resistance and tumor heterogeneity, implementation and equity barriers, and survivorship needs (toxicity, quality of life, cardio-oncology). Collectively, emerging technologies and integrated platforms offer the potential measurable improvements in diagnostic precision, treatment efficacy, and patient outcomes, provided that validation, harmonization, and equitable adoption progress at a similar pace.