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Status of estrogen receptor 1 (ESR1) gene in mastopathy predicts subsequent development of breast cancer

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Abstract

Mastopathy is a common disease of the breast likely associated with elevated estrogen levels and a putative risk factor for breast cancer. The role of estrogen receptor alpha (ESR1) in mastopathy has not been investigated previously. Here, we investigated the prevalence of ESR1 gene amplification in mastopathy and its prediction for breast cancer. Paraffin-embedded tissues from 58 women with invasive breast cancer were analyzed. For all women, tissues with mastopathy taken at least 1.5 years before first diagnosis of breast cancer were available. Tissue from 46 women with mastopathy without a diagnosis of breast carcinoma in the observed time frame (12–18 years) was used as control. Fluorescence in situ hybridization analysis revealed that ESR1 was amplified in nine of 58 (15.5 %) breast cancers. All ESR1-amplified breast cancers were strongly positive for estrogen receptor with ER immunohistochemistry. Interestingly, in women with ESR1 amplification in breast cancer, the amplification was detectable in mastopathic tissues prior to the first diagnosis of breast cancer but was absent in tissues from women with mastopathy who did not develop breast cancer. Our study suggests that ESR1 gene amplification is an early event in breast pathology and might be a helpful predictive marker to identify patients at high risk of developing breast cancer.

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Acknowledgments

We thank Hüseyin Sirma for participating in discussion of the results.

Conflict of interest

All authors declare that they have no conflict of interest.

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    Authors and Affiliations

    1. Department of Surgery, University Hospital Basel, Spitalstrasse 21, 4031, Basel, Switzerland

      Savas D. Soysal

    2. Institute of Pathology, University Hospital Charité Berlin, Charite Campus-Mitte, Chariteplatz 1, 10117, Berlin, Germany

      Incken B. Kilic, Christian R. A. Regenbrecht, Manfred Dietel & Ergin Kilic

    3. Institute of Pathology, University of Basel, Schönbeinstrasse 40, 4031, Basel, Switzerland

      Sandra Schneider, Simone Muenst & Luigi M. Terracciano

    4. Department of Oncology and Hematology, City Hospital Triemli, Birmensdorferstrasse 497, 8063, Zurich, Switzerland

      Nerbil Kilic

    5. Department of Gynecology and Obstetrics, Cantonal Hospital Winterthur, Brauerstrasse 15, 8401, Winterthur, Switzerland

      Uwe Güth

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    1. Savas D. Soysal
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    Correspondence to Ergin Kilic.

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    Savas D. Soysal and Incken B. Kilic have contributed equally to this work.

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    Soysal, S.D., Kilic, I.B., Regenbrecht, C.R.A. et al. Status of estrogen receptor 1 (ESR1) gene in mastopathy predicts subsequent development of breast cancer. Breast Cancer Res Treat 151, 709–715 (2015). https://doi.org/10.1007/s10549-015-3427-y

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    • DOI: https://doi.org/10.1007/s10549-015-3427-y

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