Characterization of ESR1 alterations in patients with breast and gynecologic cancers.

ABSTRACT:

Background

ESR1 alterations present a common mechanism of resistance to endocrine therapy (ET) in hormonally driven tumors. The clinical significance of these alterations continues to evolve with newly approved targeted therapies and a range of ongoing investigational trials.

Methods

A retrospective study of 2574 breast cancer (BC) and 1110 gynecologic cancer samples that underwent whole exome and whole transcriptome profiling was conducted to assess the distribution of ESR1 and associated co-alterations in local (primary breast or regional lymph node) versus metastatic BC samples and in the major BC subtypes. Prior treatment history was unknown.

Results

ESR1 alterations were present in 6.2% (n = 159/2574) of BC samples and 3.4% (n = 38/1110) of gynecologic cancer sam

SUBMITTER: Basu GD 

PROVIDER: S-EPMC12879367 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature