The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies.

ABSTRACT:

Purpose

Estrogen receptor-alpha (ER) is a therapeutic target of ER-positive (ER+) breast cancers. Although ER signaling is complex, many mediators of this pathway have been identified. Specifically, phosphorylation of ER at serine 118 affects responses to estrogen and therapeutic ligands and has been correlated with clinical outcomes in ER+ breast cancer patients. We hypothesized that a newly described germline variant (S118P) at this residue would drive cellular changes consistent with breast cancer development and/or hormone resistance.

Methods

Isogenic human breast epithelial cell line models harboring ER S118P were developed via genome editing and characterized to determine the functional effects of this variant. We also examined the frequency of ER S118P in a case-contr

SUBMITTER: Button B 

PROVIDER: S-EPMC6447053 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature