Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

  • Authors:
    • Maria A. Loizidou
    • Andreas Hadjisavvas
    • George A. Tanteles
    • Elena Spanou‑Aristidou
    • Kyriacos Kyriacou
    • Violetta Christophidou‑Anastasiadou
  • View Affiliations

  • Published online on: November 2, 2015     https://doi.org/10.3892/ol.2015.3852
  • Pages: 471-473
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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.
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January 2016
Volume 11 Issue 1

Print ISSN: 1792-1074
Online ISSN:1792-1082

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APA
Loizidou, M.A., Hadjisavvas, A., Tanteles, G.A., Spanou‑Aristidou, E., Kyriacou, K., & Christophidou‑Anastasiadou, V. (2016). Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncology Letters, 11, 471-473. https://doi.org/10.3892/ol.2015.3852
MLA
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11.1 (2016): 471-473.
Chicago
Loizidou, M. A., Hadjisavvas, A., Tanteles, G. A., Spanou‑Aristidou, E., Kyriacou, K., Christophidou‑Anastasiadou, V."Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report". Oncology Letters 11, no. 1 (2016): 471-473. https://doi.org/10.3892/ol.2015.3852