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Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families

  • Epidemiology
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Abstract

Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.

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Acknowledgements

This work was partially supported by grants from Associazione Italiana per la Ricerca sul Cancro, Ministry of Health, the National research Council (CNR), the Ministry of University and Research, the Pasteur Institute, Cenci-Bolognetti Foundation.

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Authors and Affiliations

  1. Department of Experimental Medicine and Pathology, University La Sapienza, Policlinico Umberto I Viale Regina Elena, 324, 00161, Rome, Italy

    Giuseppe Giannini, Carlo Capalbo, Elisabetta Ristori, Amelia Buffone, Enrico Cortesi, Massimo Zani, Sergio Ferraro, Luigi Frati, Isabella Screpanti & Alberto Gulino

  2. Medical Oncology, IDI-IRCCS, 00167, Rome, Italy

    Paolo Marchetti

  3. Department of Experimental Medicine, University of L’Aquila, 67010, L’Aquila, Italy

    Enrico Ricevuto, Tina Sidoni & Paolo Marchetti

  4. Department of Oncology, Catholic University of the Sacred Heart, Campobasso, Italy

    Giovanni Scambia

  5. Department of Medical Oncology, Regina Elena Cancer Institute, Rome, Italy

    Silverio Tomao

  6. Neuromed Institute, Pozzilli, Italy

    Christian Rinaldi, Luigi Frati & Alberto Gulino

Authors
  1. Giuseppe Giannini
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  2. Carlo Capalbo
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  3. Elisabetta Ristori
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  4. Enrico Ricevuto
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  6. Amelia Buffone
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  7. Enrico Cortesi
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  8. Paolo Marchetti
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  9. Giovanni Scambia
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  10. Silverio Tomao
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  12. Massimo Zani
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  13. Sergio Ferraro
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  14. Luigi Frati
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  15. Isabella Screpanti
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  16. Alberto Gulino
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Correspondence to Giuseppe Giannini.

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Giannini, G., Capalbo, C., Ristori, E. et al. Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Res Treat 100, 83–91 (2006). https://doi.org/10.1007/s10549-006-9225-9

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  • DOI: https://doi.org/10.1007/s10549-006-9225-9

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