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A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes

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Abstract

We report an extremely rare case of familial breast cancer with deleterious germline mutations in both BRCA1 and BRCA2 genes, of which, to date, no such case has been reported among Japanese breast/ovarian cancer patients. Genetic testing of the family members indicated that the same double heterozygosity for BRCA1 and BRCA2 genes was transmitted to the paternal cousin, and the same BRCA2 mutation to the younger sister with bilateral breast cancer, younger brother with stomach cancer, and proband’s son and daughter without cancer. Immunohistochemical analysis of BRCA protein expression was performed using breast cancer tissues from the proband with double heterozygosity for BRCA1 and BRCA2 genes and from her sibling without BRCA1 mutation but with BRCA2 mutation. There was no staining of either BRCA in the proband and no staining of BRCA2 in the sibling.

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Surgery and Breast Surgery, Hoshi General Hospital, 2-1-16 Omachi, Koriyama, 963-8501, Japan

    Tadashi Nomizu, Masami Matsuzaki, Naoto Katagata, Yusuke Kobayashi, Takeshi Sakuma, Tomoyuki Monma, Motonobu Saito & Fumiaki Watanabe

  2. Clinic of Familial Tumor, Hoshi General Hospital, Koriyama, Japan

    Tadashi Nomizu

  3. Department of Pathology, Hoshi General Hospital, Koriyama, Japan

    Shinichi Midorikawa & Yoshiko Yamaguchi

Authors
  1. Tadashi Nomizu
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  2. Masami Matsuzaki
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  3. Naoto Katagata
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  4. Yusuke Kobayashi
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  5. Takeshi Sakuma
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  6. Tomoyuki Monma
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  7. Motonobu Saito
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  8. Fumiaki Watanabe
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  9. Shinichi Midorikawa
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  10. Yoshiko Yamaguchi
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Correspondence to Tadashi Nomizu.

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Nomizu, T., Matsuzaki, M., Katagata, N. et al. A case of familial breast cancer with double heterozygosity for BRCA1 and BRCA2 genes. Breast Cancer 22, 557–561 (2015). https://doi.org/10.1007/s12282-012-0432-4

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  • DOI: https://doi.org/10.1007/s12282-012-0432-4

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