Breast Cancer Research and Treatment

, Volume 144, Issue 1, pp 11–19 | Cite as

Estrogen receptor (ER) α mutations in breast cancer: hidden in plain sight

  • Suzanne A. W. Fuqua
  • Guowei Gu
  • Yassine Rechoum


The idea that somatic ERα mutations could play an important role in the evolution of hormone-dependent breast cancers was proposed some years ago (Fuqua J Mammary Gland Biol Neoplasia 6(4):407–417, 2001; Dasgupta et al. Annu Rev Med 65:279–292, 2013), but has remained controversial until recently. A significant amount of new data has confirmed these initial observations and shown their significance, along with much additional work relevant to the treatment of breast cancer. Thus, it is the purpose of this review to summarize the research to date on the existence and clinical consequences of ERα mutations in primary and metastatic breast cancer.


Estrogen receptor Metastasis Tumor evolution Mutation Resistance 



I want to personally thank Dr. Jan Carlstedt-Duke for his continued encouragement and support of my ERα mutational work in breast cancer. I also would like to acknowledge Ms. Amanda Beyer and Dr. Gary Chamness for excellent editorial assistance with this review. Finally, my sincere thanks go to Dr. Marc Lippman, who suggested the analogy to Poe’s short story. This work was supported by NIH/NCI R01-CA72038.


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Suzanne A. W. Fuqua
    • 1
  • Guowei Gu
    • 1
  • Yassine Rechoum
    • 1
  1. 1.Lester and Sue Smith Breast Center, Dan L Duncan Cancer CenterBaylor College of MedicineHoustonUSA

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