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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 Wolf
Published 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.
Keyphrases
  • breast cancer cells
  • risk factors
  • gene expression
  • stem cells
  • transcription factor
  • dna methylation
  • bone marrow
  • young adults
  • copy number