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Implications of ESR1 Mutations in Hormone Receptor-Positive Breast Cancer

  • Breast Cancer (ML Telli, Section Editor)
  • Published:
Current Treatment Options in Oncology Aims and scope Submit manuscript

Opinion Statement

Endocrine treatment resistance eventually develops during adjuvant and even more often during hormonal treatment for advanced breast cancer (ABC). An ESR1 gene mutation, which encodes for the estrogen receptor (ER) protein, is one of the potential mechanisms of therapy resistance. The ESR1 mutations result in conformational changes in the ER leading to subsequent estrogen-independent transcriptional activity. These mutations are found at a lower level in early stage when compared to metastatic BC, more often through selective pressure after aromatase inhibitor (AI) treatment. Recent studies have explored the role of ESR1 mutations as potential prognostic and predictive biomarkers and showed that ESR1 mutations are likely associated with a more aggressive disease. However, definitive associations with outcome in order to make a specific treatment recommendation are yet to be found. The development of targeted therapy directed to ESR1-mutated clones is an appealing concept, and preclinical and clinical works are in progress. ESR1 mutations represent an exciting field with a rapidly increasing number of recent publications that will likely advance the knowledge of treatment resistance mechanisms and pave the way into more individualized patient endocrine treatment.

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Authors and Affiliations

  1. Hospital do Câncer Mãe de Deus, Porto Alegre, Brazil

    Tomás Reinert MD

  2. Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Tomás Reinert MD

  3. Setor de Mastologia, Hospital das Clínicas, Disciplina de Ginecologia, Departamento de Obstetrícia e Ginecologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

    Rodrigo Gonçalves MD, MSc, PhD

  4. Instituto Nacional de Câncer (INCA-HCIII), Rua Visconde de Santa Isabel 274 - oitavo andar, Rio de Janeiro, Brazil

    José Bines MD, PhD

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Reinert, T., Gonçalves, R. & Bines, J. Implications of ESR1 Mutations in Hormone Receptor-Positive Breast Cancer. Curr. Treat. Options in Oncol. 19, 24 (2018). https://doi.org/10.1007/s11864-018-0542-0

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