Dec 25, 2024 · ESR1 (Estrogen Receptor 1) is a Protein Coding gene. Diseases associated with ESR1 include Estrogen Resistance and Breast Cancer. Among its related pathways are Constitutive Signaling by Aberrant PI3K in Cancer and ESR-mediated signaling.

In this review, we discuss mechanisms of resistance and dissemination of ESR1 mutations, as well as detection methods for ESR1 mutation tracking, newly discovered potential therapeutic targets, and the clinical implications and treatment options for treating patients with ESR1 mutant-bearing tumors.

Mar 8, 2025 · Estrogen receptor 1 chromatin profiling in human breast tumors reveals high inter-patient heterogeneity with enrichment of risk SNPs and enhancer activity at most-conserved regions.

5 days ago · Explore how ESR1 mutations influence hormone-sensitive disorders, their role in cellular disruption, and the tools used for detection and analysis.

Aug 15, 2021 · In metastatic hormone receptor-positive breast cancer, ESR1 mutations are a common cause of acquired resistance to the backbone of therapy, estrogen deprivation by aromatase inhibition. How these mutations affect tumor sensitivity to established and novel therapies are active areas of research.

One major driver of ET resistance is mutations in the ER gene (ESR1) leading to constitutive transcriptional activity and reduced ET sensitivity. These mutations are particularly detrimental in metastatic breast cancer (MBC) as they are present in as high as 36% of the patients.

2 days ago · Seth Wander, MD, PhD, discusses the significance of ESR1 mutations in patients with hormone receptor–positive, HER2-negative metastatic breast cancer.

Feb 7, 2025 · This study aims to identify if ESR1 mutations generate specific T cell responses against ESR1 neoantigens in patients with HR + HER2 − BC, and to investigate if ESR1 mutations might correlate with a gene expression profile related to …

The mechanisms of ET resistance are often related to the occurrence of mutations in the ESR1 gene, which encodes the ER-alpha protein. As ESR1 mutations are hardly detectable at diagnosis but are present in 30% to 40% of advanced BC (ABC) after treatment, the timeline of …

Nov 1, 2019 · The acquisition of ligand-independent ESR1 mutations during aromatase inhibitor therapy in metastatic estrogen receptor (ER)-positive breast cancer is a common mechanism of hormonal therapy resistance.