Article
R269C variant of ESR1: high prevalence and differential function in a subset of pancreatic cancers.
BMC cancer - 8 Jun 2020
Boldes Tomer, Merenbakh-Lamin Keren, Journo Shani, Shachar Eliya, Lipson Doron, Yeheskel Adva, Pasmanik-Chor Metsada, Rubinek Tami, Wolf Ido
Abstract excerpt
BACKGROUND: Estrogen receptor α (ESR1) plays a critical role in promoting growth of various cancers. Yet, its role in the development of pancreatic cancer is not well-defined. A less studied region of ESR1 is the hinge region, connecting the ligand binding and DNA domains. rs142712646 is a rare SNP in ESR1, which leads to a substitution of arginine to cysteine at amino acid 269 (R269C). The mutation is positioned...
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