Available and emerging molecular markers in the clinical management of breast cancer

Introduction: Biomarker assessment is fundamental to managing patients with invasive breast cancer. While the assessment of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 is mandatory for all invasive breast tumors, recent advances in our understanding of tumor biology have uncovered a growing list of clinically relevant biomarkers. Areas covered: In early-stage breast cancer, we focus on dynamic changes in Ki-67 during neoadjuvant endocrine therapy and multigene prognostic assays to guide adjuvant chemotherapy decisions. In advanced breast cancer, we discuss the techniques and clinical relevance of ESR1 and PIK3CA mutations in cell-free DNA and describe therapeutically targetable germline or somatic alterations, with specific focus on BRCA mutations, microsatellite instability, and NTRK fusions. Expert opinion: Biomarkers influence breast cancer management at every stage of disease. This review summarizes recently identified tissue and blood-based biomarkers, implications on clinical management, current limitations and future developments in both early- and advanced-stage breast cancer.