Whole transcriptome profiling of ESR1 Q375H and R394H mutatons from the human breast cancer MB-231 stable cells

Estrogeh insensitivity syndrome (EIS) arises from rare mutations in estrogen receptor α (ERα, encoded by ESR1 gene) resulting in the inability of estrogen to exert its biological effects. Due to the rarity, mutations in ESR1 gene and the underlying molecular mechanisms of EIS have not been thoroughly studied. We used whole transcriptome analysis to comparison of the transcriptome between the WT ESR1 and Q375H and R394H clinical mutants in MB231 stable cell lines. MB231 cells stably exressing the WT, Q and R mutation were tretaed with veh, E2 or DES for 18 hours.