R269C variant of ESR1: high prevalence and differential function in a subset of pancreatic cancers.
Tomer BoldesKeren Merenbakh-LaminShani JournoEliya ShacharDoron LipsonAdva YeheskelMetsada Pasmanik-ChorTami RubinekIdo WolfPublished in: BMC cancer (2020)
Our study shed new light on the role of the hinge region in regulating transcriptional activity of the ER and indicates cell-type specific activity, namely increased activity in pancreatic cancer cells but reduced activity in breast cancer cells. While rare, the presence of rs142712646 may serve as a novel genetic risk factor, and a possible target for therapy in a subset of non-ductal pancreatic cancers.