Markers used in the pathogenesis and diagnosis of breast cancer

Breast cancer (BC) is the most commonly diagnosed malignancy among women worldwide, with rising incidence rates in both developed and developing countries. Accurate and early diagnosis plays a crucial role in improving patient outcomes, reducing mortality, and guiding effective treatment strategies. This review focuses on the role of biomarkers in diagnosing BC, highlighting key molecular and serum-based indicators that contribute to disease detection, prognosis, and therapeutic monitoring. Traditional BC biomarkers such as carcinoembryonic antigen (CEA) and CA 15-3 have been widely used for disease monitoring, while hormone receptors (estrogen receptor [ER], progesterone receptor [PR]) and HER2 status are essential for treatment selection. The proliferation marker Ki-67 provides additional prognostic insights. Recent advancements in biomarker research have led to the exploration of liquid biopsy as a non-invasive diagnostic tool, assessing circulating tumor DNA (ctDNA) and microRNAs (miRNAs) for early detection. Additionally, matrix metalloproteinases (MMPs) and progranulin (GP88) have emerged as potential serum biomarkers with diagnostic and prognostic significance. Despite these advancements, challenges remain in the clinical standardization and widespread implementation of novel biomarkers. Further research is required to validate their specificity and sensitivity in BC detection, improve early diagnostic capabilities, and enhance personalized treatment approaches. The integration of molecular diagnostics with innovative technologies holds promise for refining BC diagnosis and optimizing patient care.