Estrogen insensitivity syndrome: the 'Upside Down' of ESR1 mutations.
The estrogen receptor α (ERα) is a central regulator of 17β-estradiol (E2)-dependent physiological processes in reproductive and non-reproductive tissues. Deregulation of ERα signaling underlies distinct human pathologies, including breast cancer (BC) and the rare genetic disorder called estrogen insensitivity syndrome...