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Updated: Dec 23, 2025

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ESR1 Mutations Are Not a Common Mechanism of Endocrine Resistance in Patients With Estrogen Receptor-Positive Breast

Tomás Reinert1,2,3, Susana Ramalho4, Vivian Castro Antunes de Vasconcelos4

  • 1Postgraduate Program in Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.

Frontiers in Oncology
|April 21, 2020
PubMed

Insights

Estrogen receptor 1 gene mutations (ESR1m) are not a common cause of primary endocrine resistance in early-stage breast cancer treated with neoadjuvant therapy. This suggests ESR1m is more relevant to acquired resistance in advanced disease.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Estrogen receptor 1 gene mutations (ESR1m) are key in endocrine therapy resistance for metastatic breast cancer.
  • ESR1m are investigated as therapeutic targets and biomarkers.
  • The role of ESR1m in primary endocrine resistance, especially in early-stage disease, is understudied.

Purpose of the Study:

  • To evaluate the prevalence of ESR1 mutations in early-stage ER+ breast cancer resistant to neoadjuvant aromatase inhibitor therapy.
  • To determine if ESR1m is a mechanism of primary endocrine resistance in the neoadjuvant setting.

Main Methods:

  • Prospective cohort study of ER+ HER2- stage II/III breast cancer patients receiving neoadjuvant endocrine therapy (NET).
  • Tumor samples analyzed for ESR1m in patients with primary endocrine resistance (PEPI score ≥4).

Main Results:

  • 23 patients with primary endocrine resistance were analyzed.
  • No ESR1 mutations were detected in any of the analyzed patients with early-stage ER+ breast cancer resistant to NET.

Conclusions:

  • ESR1 mutations do not appear to be a common mechanism for primary endocrine resistance in the neoadjuvant setting.
  • ESR1m is likely a mechanism of acquired resistance in advanced breast cancer.
  • Further research is needed to identify factors associated with intrinsic endocrine therapy resistance.
Keywords:
ESR1ESR1 mutationsaromatase inhibitorsbreast cancerendocrine therapyneoadjuvant

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