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Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Purpose

To describe imaging findings, detection rates, and tumor characteristics of breast cancers in a large series of patients with BRCA1 and BRCA2 mutations to potentially streamline screening strategies.

Methods

An IRB-approved, HIPAA-compliant retrospective analysis of 496 BRCA mutation carriers diagnosed with breast carcinoma from 1999 to 2013 was performed. Institutional database and electronic medical records were reviewed for mammography and MRI imaging. Patient and tumor characteristics including age at diagnosis, tumor histology, grade, receptor, and nodal status were recorded.

Results

Tumors in BRCA1 mutation carriers were associated exhibited significantly higher nuclear and histological grade compared to BRCA2 (p < 0.001). Triple-negative tumors were more frequent in BRCA1 mutation carriers, whereas hormone receptor-positive tumors were more frequent in BRCA2 mutation carriers (p < 0.001). BRCA2 mutation carriers more frequently presented with ductal carcinoma in situ (DCIS) alone 14% (35/246) and cancers more frequently exhibiting calcifications (p < 0.001). Mammography detected fewer cancers in BRCA1 mutation carriers compared to BRCA2 (p = 0.04): 81% (186/231) BRCA1 versus 89% (212/237) BRCA2. MRI detected 99% cancers in each group. Mammography detected cancer in two patients with false-negative MRI (1 invasive cancer, 1 DCIS). Detection rates on both mammography and MRI did not significantly differ for women over 40 years and women below 40 years.

Conclusions

Breast cancers in BRCA1 mutation carriers are associated with more aggressive tumor characteristics compared to BRCA2 and are less well seen on mammography. Mammography rarely identified cancers not visible on MRI. Thus, the omission of mammography in BRCA1 mutation carriers screened with MRI can be considered.

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Acknowledgements

This research was funded in part through the National Institutes of Health/National Cancer Institute Cancer Center Support Grant P30 CA008748.

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    Authors and Affiliations

    1. Institute of Clinical Radiology and Nuclear Medicine, University Medical Center Mannheim, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany

      Julia Krammer

    2. Division of Biomedical Imaging and Image-guided Therapy, Division of Molecular and Gender Imaging, Medical University Vienna, Vienna, Austria

      Katja Pinker-Domenig

    3. Molecular Imaging and Therapy Service, Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, USA

      Katja Pinker-Domenig

    4. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, USA

      Mark E. Robson

    5. Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, USA

      Mithat Gönen & Blanca Bernard-Davila

    6. Breast Imaging Service, Breast Imaging Section, Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, USA

      Elizabeth A. Morris & Maxine S. Jochelson

    7. Risk Assessment, Imaging, Surveillance & Education (RISE) Program, Memorial Sloan Kettering Cancer Center, New York, USA

      Debra A. Mangino

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    1. Julia Krammer
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    Correspondence to Maxine S. Jochelson.

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    All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required.

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    Julia Krammer and Katja Pinker-Domenig have contributed equally for this work.

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    Krammer, J., Pinker-Domenig, K., Robson, M.E. et al. Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 163, 565–571 (2017). https://doi.org/10.1007/s10549-017-4198-4

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