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ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients

Lindsay Angus1, Nick Beije1, Agnes Jager1

  • 1Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, The Netherlands.

Cancer Treatment Reviews
|November 26, 2016
PubMed

Insights

Estrogen receptor (ER) gene mutations (ESR1) can cause endocrine resistance in metastatic breast cancer (MBC). Detecting ESR1 mutations may help personalize treatment for MBC patients, improving outcomes.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Estrogen receptor (ER) gene (ESR1) mutations are linked to endocrine resistance in ER-positive metastatic breast cancer (MBC).
  • These mutations cause constitutive ER activity, leading to resistance against endocrine therapies.
  • ESR1 mutations are infrequent in primary tumors but more common in metastatic sites and cell-free DNA after treatment.

Purpose of the Study:

  • To review ESR1 mutation detection methods.
  • To summarize key preclinical and clinical studies on ESR1 mutations and endocrine resistance.
  • To explore the potential of ESR1 mutation status for guiding MBC treatment decisions.

Main Methods:

  • Literature review of preclinical and clinical studies.
  • Analysis of ESR1 mutation detection techniques.
  • Synthesis of data on the clinical significance of ESR1 mutations in MBC.

Main Results:

  • ESR1 mutations confer ligand-independent ER activity, driving endocrine resistance.
  • Clinical data show increased prevalence of ESR1 mutations in advanced MBC, particularly after endocrine therapy.
  • Detection methods for ESR1 mutations are evolving, with applications in liquid biopsies.

Conclusions:

  • ESR1 mutations are a significant mechanism of acquired endocrine resistance in MBC.
  • Assessing ESR1 mutation status is crucial for understanding treatment resistance.
  • Identifying ESR1 mutations can inform personalized treatment strategies for MBC patients.
Keywords:
Cell-free DNAESR1 mutationsEndocrine resistanceMetastatic breast cancer

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