PLOS ONE: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

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PLOS ONE: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

Research Article

Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

• Alexandra V. Stavropoulou,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Florentia Fostira,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Maroulio Pertesi,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Marianthi Tsitlaidou,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Gerassimos E. Voutsinas,
  Affiliation: Laboratory of Environmental Mutagenesis and Carcinogenesis, Institute of Biosciences and Applications, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Olga Triantafyllidou,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• Aristotelis Bamias,
  Affiliation: Department of Clinical Therapeutics, Alexandra Hospital, University of Athens School of Medicine, Athens, Greece
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• Meletios A. Dimopoulos,
  Affiliation: Department of Clinical Therapeutics, Alexandra Hospital, University of Athens School of Medicine, Athens, Greece
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• Eleni Timotheadou,
  Affiliation: Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece
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• Dimitrios Pectasides,
  Affiliation: Oncology Section, Second Department of Internal Medicine, “Hippokration” Hospital, Athens, Greece
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• Christos Christodoulou,
  Affiliation: Second Department of Medical Oncology, “Metropolitan” Hospital, Piraeus, Greece
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• George Klouvas,
  Affiliation: Second Department of Medical Oncology, “Metropolitan” Hospital, Piraeus, Greece
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• Christos Papadimitriou,
  Affiliation: Department of Clinical Therapeutics, Alexandra Hospital, University of Athens School of Medicine, Athens, Greece
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• [ ... ],
• Thomas Makatsoris,
  Affiliation: Division of Oncology, Department of Medicine, University Hospital, University of Patras Medical School, Patras, Greece
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• George Pentheroudakis,
  Affiliation: Department of Medical Oncology, Ioannina University Hospital, Ioannina, Greece
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• Gerasimos Aravantinos,
  Affiliation: Second Department of Medical Oncology, “Agii Anargiri” Cancer Hospital, Athens, Greece
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• Vassilis Karydakis,
  Affiliation: 1st Department of Surgery, Rhodes General Hospital, Rhodes, Greece
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• Drakoulis Yannoukakos,
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• George Fountzilas,
  Affiliation: Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece
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• Irene Konstantopoulou mail
  * E-mail: reena@rrp.demokritos.gr
  Affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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• , [ view all ]

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Abstract

Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23–24 and exon 24). In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6%) of familial cancer cases and in 27/592 (4.6%) of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%). The majority of BRCA1 carriers (71.2%) presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

Citation: Stavropoulou AV, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, et al. (2013) Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases. PLoS ONE 8(3): e58182. doi:10.1371/journal.pone.0058182
Editor: Paolo Peterlongo, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Italy

Received: November 26, 2012; Accepted: January 31, 2013; Published: March 11, 2013
Copyright: © 2013 Stavropoulou et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Funding: The authors have no support or funding to report.
Competing interests: The authors have declared that no competing interests exist.