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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

  • Epidemiology
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Abstract

127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with previously reported mutation data reveals that in a total of 287 Greek breast/ovarian cancer families, 46 and 13 carry a deleterious mutation in BRCA1 and BRCA2, respectively. It should be noted that two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation. Based on our mutation analysis results, we propose here a hierarchical, cost-effective BRCA1/2 mutation screening protocol for individuals of Greek ethnic origin. The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level.

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Acknowledgements

We are indebted to the patients for their willingness to collaborate for the purpose of this study. This work was partly supported by the Hellenic Cooperative Oncology Group (HeCOG), the Hellenic Institute for Occupational Health and Safety, the Greek Ministry of Health & Welfare (MOHAW) and the Greek General Secretary for Research & Technology (GSRT) Program ‘Research in Excellence II’ funded by 75% from the European Union.

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Authors and Affiliations

  1. Molecular Diagnostics Laboratory, I/R-RP, National Center for Scientific Research “Demokritos”, Athens, Greece

    Irene Konstantopoulou, Angela Ladopoulou, Sophia Armaou, Theodore Anagnostopoulos, George Nikolopoulos, George Nounesis & Drakoulis Yannoukakos

  2. BioGenomica, Centre for Genetic Research & Analysis, Athens, Greece

    Irene Konstantopoulou, Theodore Rampias, Angela Ladopoulou, George Koutsodontis, Smaragda Kamakari & Thalia Bei

  3. KAT Hospital, Athens, Greece

    Antonis Stylianakis

  4. Department of Medical Oncology, 424 Army General Hospital, Thessaloniki, Greece

    Charisios Karanikiotis

  5. Diagnostic and Therapeutic Centre of Athens HYGEIA, Athens, Greece

    Evangelia Razis

  6. First Department of Internal Medicine, University of Athens, Athens, Greece

    Helen Gogas

  7. Breast Cancer Unit, Iaso Women’s Hospital, Maroussi, Greece

    Antonios Keramopoulos & Vassiliki Gaki

  8. Hellenic Breast Surgeons Society, Athens, Greece

    Christos Markopoulos

  9. 2nd Oncology Department, Henri Dunant Hospital, Athens, Greece

    Dimosthenis Skarlos

  10. Department of Genetics, Saint Savvas Anticancer Hospital, Athens, Greece

    Nikos Pandis

  11. Instiute of Human Genetics, University of Aarhus, Aarhus, Denmark

    Iordanis Arzimanoglou

  12. Department of Medical Oncology, “Papageorgiou” Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece

    George Fountzilas

  13. Hellenic Cooperative Oncology Group, Athens, Greece

    George Fountzilas

Authors
  1. Irene Konstantopoulou
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  2. Theodore Rampias
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  3. Angela Ladopoulou
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  5. Sophia Armaou
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  6. Theodore Anagnostopoulos
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  7. George Nikolopoulos
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  9. George Nounesis
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  11. Charisios Karanikiotis
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  12. Evangelia Razis
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  13. Helen Gogas
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  14. Antonios Keramopoulos
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  15. Vassiliki Gaki
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  17. Dimosthenis Skarlos
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  18. Nikos Pandis
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  19. Thalia Bei
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  20. Iordanis Arzimanoglou
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  21. George Fountzilas
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  22. Drakoulis Yannoukakos
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Corresponding author

Correspondence to Drakoulis Yannoukakos.

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Irene Konstantopoulou and Theodore Rampias equally contributed to this work.

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Konstantopoulou, I., Rampias, T., Ladopoulou, A. et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. Breast Cancer Res Treat 107, 431–441 (2008). https://doi.org/10.1007/s10549-007-9571-2

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  • DOI: https://doi.org/10.1007/s10549-007-9571-2

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