Genetics & Genomics Department, United Arab Emirates University, Abu Dhabi, UAE
Case Series
Endocrine sequencing in ESR1-mutant HR+/HER2â?? metastatic breast cancer: a two-case series
Author(s): Dina Hamza, Mohammad Hourani* and Rawan Bdair
Background: Breast cancer is the most common cancer and the leading cause of cancer-related death in women worldwide, with hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative (HER2-) tumors comprising approximately 70% of breast cancer. Endocrine therapy combined with cyclin dependent kinase 4 and 6 (CDK4/6) inhibitors is standard for advanced disease; however, resistance often develops, frequently driven by estrogen receptor 1 (ESR1) mutations. Emerging therapies, such as the oral selective estrogen receptor degraders (SERDs) Elacestrant, demonstrate significant benefit, particularly in ESR1-mutated tumors. We report two HR+/HER2− metastatic cases illustrating endocrine resistance and the evolving role of SERDs in management.
Case presentations: Case 1 involved a premenopausal, breast cancer gene (BRCA) wild.. View More»