The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer.

ABSTRACT:

Background

In breast cancer (BC), recurrent fusion genes of estrogen receptor alpha (ESR1) and AKAP12, ARMT1 and CCDC170 have been reported. In these gene fusions the ligand binding domain of ESR1 has been replaced by the transactivation domain of the fusion partner constitutively activating the receptor. As a result, these gene fusions can drive tumor growth hormone independently as been shown in preclinical models, but the clinical value of these fusions have not been reported. Here, we studied the prognostic and predictive value of different frequently reported ESR1 fusion transcripts in primary BC.

Methods

We evaluated 732 patients with primary BC (131 ESR1-negative and 601 ESR1-positive cases), including two ER-positive BC patient cohorts: one cohort of 322 patients wit

SUBMITTER: Vitale SR 

PROVIDER: S-EPMC8840267 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature