title: BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.
abstract: This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1/2 genes were identified in 68 of the 527 patients tested (13%). It is of interest that a quarter of those tested positive, did not have an extensive family history of breast/ovarian cancer but were diagnosed with early onset breast cancer, ovarian cancer under the age of 60 or triple negative breast cancer. The spectrum of mutations identified in our patient cohort is different compared to other Mediterranean countries. Furthermore, several of the mutations detected are novel and have not been identified in other ethnic populations. This highlights the importance of operating a national reference center for cancer genetic diagnosis which offers services tailored to the needs of the Cypriot population.
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: M A
authors.initials: MA
authors.lastname: Loizidou
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.|The Cyprus School of Molecular Medicine, Nicosia Cyprus.
authors.forename: A
authors.initials: A
authors.lastname: Hadjisavvas
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: P
authors.initials: P
authors.lastname: Pirpa
authors.affiliation: Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: E
authors.initials: E
authors.lastname: Spanou
authors.affiliation: Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: T
authors.initials: T
authors.lastname: Delikurt
authors.affiliation: Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: G A
authors.initials: GA
authors.lastname: Tanteles
authors.affiliation: Departments of Medical and Radiation Oncology, Bank of Cyprus Oncology Center, Nicosia Cyprus.
authors.forename: M
authors.initials: M
authors.lastname: Daniel
authors.affiliation: Departments of Medical and Radiation Oncology, Bank of Cyprus Oncology Center, Nicosia Cyprus.
authors.forename: P
authors.initials: P
authors.lastname: Kountourakis
authors.affiliation: Department of Oncology, Limassol General Hospital, Limassol Cyprus.
authors.forename: S
authors.initials: S
authors.lastname: Malas
authors.affiliation: Department of Oncology, Nicosia General Hospital, Nicosia Cyprus.
authors.forename: G
authors.initials: G
authors.lastname: Ioannidis
authors.affiliation: Department of Histopathology, Nicosia General Hospital, Nicosia Cyprus.
authors.forename: I
authors.initials: I
authors.lastname: Zouvani
authors.affiliation: Departments of Medical and Radiation Oncology, Bank of Cyprus Oncology Center, Nicosia Cyprus.
authors.forename: E
authors.initials: E
authors.lastname: Kakouri
authors.affiliation: Departments of Medical and Radiation Oncology, Bank of Cyprus Oncology Center, Nicosia Cyprus.
authors.forename: D
authors.initials: D
authors.lastname: Papamichael
authors.affiliation: Departments of Medical and Radiation Oncology, Bank of Cyprus Oncology Center, Nicosia Cyprus.
authors.forename: Y
authors.initials: Y
authors.lastname: Marcou
authors.affiliation: The Cyprus School of Molecular Medicine, Nicosia Cyprus.|Clinical Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.
authors.forename: V
authors.initials: V
authors.lastname: Anastasiadou
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia Cyprus.|The Cyprus School of Molecular Medicine, Nicosia Cyprus.
authors.forename: K
authors.initials: K
authors.lastname: Kyriacou
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D003535:Cyprus / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D064726:Triple Negative Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein
keywords: BRCA; breast cancer; genetic testing; ovarian cancer; predisposition