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Estrogen Receptor Variant

Meaning

An Estrogen Receptor Variant denotes a naturally occurring genetic difference, such as a single nucleotide polymorphism, within the genes encoding the estrogen receptors, ERα (ESR1) or ERβ (ESR2). These variations result in subtle but significant structural or functional changes to the receptor protein. Such alterations can influence the receptor’s affinity for estrogen, its stability, or its efficiency in initiating gene transcription within the cell nucleus. Clinically, these variants are crucial determinants of an individual’s unique tissue response to both endogenous estrogen and exogenous hormone replacement therapy.