title: The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
abstract: Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies, and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion of children with FA with earlier onset and increased incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to chemotherapy and radiation, and upon development of a solid tumor, require modification of these therapies. We report clinical and molecular features of three patients with FA associated with FANCD1/BRCA2 mutations, including two novel mutations, and discuss treatment of malignancy and associated side effects in this particularly vulnerable group.
authors.affiliation: Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. kasiani.myers@cchmc.org
authors.forename: Kasiani
authors.initials: K
authors.lastname: Myers
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.forename: Richard E
authors.initials: RE
authors.lastname: Harris
authors.forename: Sheri L
authors.initials: SL
authors.lastname: Spunt
authors.forename: Teresa
authors.initials: T
authors.lastname: Smolarek
authors.forename: Sarah
authors.initials: S
authors.lastname: Zimmerman
authors.forename: Richard
authors.initials: R
authors.lastname: McMasters
authors.forename: Lars
authors.initials: L
authors.lastname: Wagner
authors.forename: Robin
authors.initials: R
authors.lastname: Mueller
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: Parinda A
authors.initials: PA
authors.lastname: Mehta
mesh_terms: D024682:BRCA2 Protein / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D010641:Phenotype
chemical_list: D024682:BRCA2 Protein