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A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

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Abstract

We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.

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Authors and Affiliations

  1. Medical Oncology Unit, University Hospital of Parma, via Gramsci 14, 43100, Parma, Italy

    Antonino Musolino, Nadia Naldi, Maria Michiara, Maria A. Bella & Andrea Ardizzoni

  2. Medical Genetics Service, University Hospital of Parma, Italy

    Paola Zanelli, Beatrice Bortesi, Marzia Capelletti, Mario Savi & Tauro M. Neri

Authors
  1. Antonino Musolino
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  2. Nadia Naldi
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  3. Maria Michiara
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  4. Maria A. Bella
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  5. Paola Zanelli
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  6. Beatrice Bortesi
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  7. Marzia Capelletti
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  8. Mario Savi
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  9. Tauro M. Neri
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  10. Andrea Ardizzoni
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Corresponding author

Correspondence to Antonino Musolino.

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Musolino, A., Naldi, N., Michiara, M. et al. A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 91, 203–205 (2005). https://doi.org/10.1007/s10549-004-7704-4

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  • DOI: https://doi.org/10.1007/s10549-004-7704-4

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