ESR1

Estrogen receptor 1, codes for a protein that functions as a receptor for the hormone estrogen.

Associated Diseases

Breast cancer 

Did you know

In metastatic breast cancer, ESR1 mutations are found in approximately 20-30% of cases, especially in patients previously treated with endocrine therapies. Mutations within ESR1, notably in its ligand-binding domain, have garnered significant attention in breast cancer research. Particularly, mutations like Y537S and D538G are associated with endocrine therapy resistance, a major clinical challenge in breast cancer treatment. These mutations confer constitutive activity to the estrogen receptor, rendering it responsive to estrogen even in its absence, leading to uncontrolled tumor growth.