Open AccessFanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report
Author(s) -
Maria A. Loizidou,
Andreas Hadjisavvas,
George A. Tanteles,
Elena SpanouAristidou,
Kyriacos Kyriacou,
Violetta ChristophidouAnastasiadou
Publication year - 2015
Publication title -
oncology letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.766
H-Index - 54
eISSN - 1792-1082
pISSN - 1792-1074
DOI - 10.3892/ol.2015.3852
Subject(s) - fanconi anemia , bone marrow failure , allele , cancer , cancer research , mutation , medicine , anemia , genetics , biology , gene , haematopoiesis , stem cell , dna repair
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.