Supplementary Figure S2 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Le résumé fourni par la source

Mutations in ESR1 at Tyr537 and Leu536. ESR1 mutations identified in two patients with uterine endometrioid carcinomas occurred at Tyr537, a hotspot most commonly associated with aromatase inhibitor resistance in patients with breast cancer patients, and Leu536. This hotspot is in close proximity to the region of the estrogen receptor that is important for ligand-dependent transcriptional function. The Tyr537 mutations cause a conformational change that constitutively activates the receptor independent of estrogen receptor binding. The Tyr537 residue is highlighted in blue in a three-dimensional view of the ESR1 protein (bottom). Due to its physical proximity to the Tyr537 hotspot, the Leu536 mutation is likely to have the same activating effect on the estrogen receptor.

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