title: Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
abstract: Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset (BRCA2) gene are responsible for the FA-D1 subgroup, which accounts for ~3% of all the FA cases. Patients with biallelic BRCA2 mutations generally display a more severe phenotype, with earlier onset and increased incidence of leukaemia and other solid tumors, than other patients with FA. In the present report, the first Cypriot patient with FA-D1 is described, which is the fifth case of a homozygote for the same null allele reported thus far, and the third known case of neuroblastoma in association with FA-D1.
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Loizidou
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hadjisavvas
authors.affiliation: Department of Clinical Genetics, Makarios Medical Centre and Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: George A
authors.initials: GA
authors.lastname: Tanteles
authors.affiliation: Department of Clinical Genetics, Makarios Medical Centre and Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: Elena
authors.initials: E
authors.lastname: Spanou-Aristidou
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Kyriacou
authors.affiliation: Cyprus School of Molecular Medicine, Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus; Department of Clinical Genetics, Makarios Medical Centre and Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
authors.forename: Violetta
authors.initials: V
authors.lastname: Christophidou-Anastasiadou
keywords: Cyprus; Fanconi anemia; biallelic BRCA2 mutation; genotype-phenotype correlation; neuroblastoma
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