ĐẶC ĐIỂM LÂM SÀNG, CẬN LÂM SÀNG VÀ ĐỘT BIẾN GEN LIÊN QUAN ĐẾN ĐIỀU TRỊ THUỐC ĐÍCH Ở BỆNH NHÂN UNG THƯ VÚ

Abstract

Introduction: Breast cancer (BC) is the most prevalent malignancy and a leading cause of morbidity and mortality among women, with an increasing incidence and mortality rate. Understanding the clinical and paraclinical characteristics, as well as genetic mutations associated with targeted therapy, is essential for optimizing diagnostic and therapeutic strategies. Objectives: To characterize the clinical, paraclinical features, and genetic mutations associated with targeted therapy in breast cancer patients. Subjects and Methods: A retrospective and prospective descriptive study was conducted on 109 women with histologically confirmed breast cancer, of whom 52 underwent next-generation sequencing (NGS) for genetic profiling. Results: Among 109 patients, 58 (53.2%) were aged 40–60 years. A family history of breast cancer was documented in 13 patients (11.9%), while 98 patients (89.9%) presented with a palpable breast mass. Lymph node metastases were detected in 68 cases (62.4%), with tumors measuring 2–5 cm being the most prevalent. Genetic analysis in 52 patients identified three major mutations: BRCA1, BRCA2, and PIK3CA, with BRCA1 being the most frequently observed (15.4%). Targeted therapy options are available for all three mutations based on current clinical guidelines. Conclusion: Breast cancer patients exhibit heterogeneous clinical and paraclinical characteristics, with tumor size strongly correlating with lymph node metastasis. The presence of BRCA1, BRCA2, and PIK3CA mutations plays a significant role in breast cancer pathogenesis and provides critical guidance for personalized targeted therapy.