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Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population

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Abstract

Breast cancer is the most common cancer in women worldwide, including Romania, where its incidence has increased significantly during the last decade. Ovarian cancer is the fourth leading cause of mortality by cancer in women. BRCA1 and BRCA2 are major cancer predisposition genes, responsible for a large percentage of hereditary breast and ovarian cancer (HBOC) families. We investigated 17 patients from unrelated HBOC families in north-eastern Romania, screening for mutations in BRCA1 and BRCA2 by mutation-specific PCR and by dideoxy sequencing. We identified four BRCA1 and two BRCA2 mutations in the 17 families. The overall mutation frequency was 41% (7/17; 5 BRCA1 and 2 BRCA2). Two mutations (BRCA1 c.2241dupC and BRCA2 c.8680C>T) were novel and not listed in the BIC database. Two recurrent BRCA1 mutations (c.5266dupC and c.181T>G), previously described among Ashkenazi Jewish and Eastern European populations, were also found. Two unclassified variants (UV) were found, one of which was novel (BRCA2 c.4589A>G). Medical follow-up for mutation carriers was implemented. Our study is the first molecular investigation of the role of the BRCA genes in breast and ovarian cancer in Romania.

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Acknowledgments

The authors would like to thank Auvergne University, which kindly financed a 1-month invitation as maitre de conferences in Clermont-Ferrand for the first author of this paper, as well as A. Cassanhes and L. Dos Santos of the Centre Jean Perrin for technical support. This study was possible with partial financial support from the Romanian Ministry for Education and Research, by the CNCSIS research grant PN-II-ID-PCE-2008, code 1990/2008. The INCa (Institut National du Cancer) and the Ligue Contre le Cancer (comité du Puy de Dôme) also assisted in financing this research.

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Authors and Affiliations

  1. Immunology and Genetics Laboratory, University of Medicine and Pharmacy “Gr.T.Popa”, Bd. Independentei, nr.1, 700111, Iasi, Romania

    Lucian Negura & Eugen Carasevici

  2. Laboratoire Diagnostic Génétique et Moléculaire, Centre Jean Perrin, 63011, Clermont-Ferrand, Cedex 01, France

    Nancy Uhrhammer & Yves-Jean Bignon

  3. Biochemistry and Molecular Biology Laboratory, University “Alexandru Ioan Cuza”, 700505, Iasi, Romania

    Anca Negura & Vlad Artenie

Authors
  1. Lucian Negura
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  2. Nancy Uhrhammer
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  3. Anca Negura
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  4. Vlad Artenie
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  5. Eugen Carasevici
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  6. Yves-Jean Bignon
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Correspondence to Lucian Negura.

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Negura, L., Uhrhammer, N., Negura, A. et al. Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population. Familial Cancer 9, 519–523 (2010). https://doi.org/10.1007/s10689-010-9361-6

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  • DOI: https://doi.org/10.1007/s10689-010-9361-6

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