Gene ESR1
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Also known as
ER, ERA, ESR, NR3A1, estrogen receptor 1Overview
ESR1 (Estrogen Receptor 1) encodes estrogen receptor alpha, the primary receptor mediating estrogen's effects throughout the body. ESR1 is a nuclear hormone receptor that acts as a transcription factor when bound to estrogen, regulating genes involved in reproduction, bone metabolism, cardiovascular function, and brain function.Variants in ESR1 have been associated with bone mineral density and fracture risk, breast cancer susceptibility, response to hormone replacement therapy, and cardiovascular outcomes. The receptor is also a therapeutic target in breast cancer, where selective estrogen receptor modulators (SERMs) like tamoxifen are used for treatment and prevention. ESR1 mutations in tumors can cause resistance to endocrine therapy.
Understanding your ESR1 genetic status provides insights into estrogen-related health outcomes including bone health, breast cancer risk, and response to hormonal therapies. This information may be relevant for decisions about hormone replacement therapy and cancer prevention strategies.