R269C variant of ESR1: high prevalence and differential function in a subset of pancreatic cancers.

ABSTRACT:

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 in the hinge region of ESR1, hence may affect the receptor structure and function. We aimed to characterize the activity of R269C-ESR1 and study its role in the development of pancreatic cancer.

Methods

Transcriptional activity was evaluated by E2-response element (ERE) and AP1 -luciferase reporter assays and qRT-PCR. Proliferation and migration were assessed using M

SUBMITTER: Boldes T 

PROVIDER: S-EPMC7282172 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature