The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations

Pediatr Blood Cancer. 2012 Mar;58(3):462-5. doi: 10.1002/pbc.23168. Epub 2011 May 5.


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.

Publication types

  • Case Reports

MeSH terms

  • BRCA2 Protein / genetics*
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / physiopathology
  • Fanconi Anemia / therapy
  • Female
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Myelodysplastic Syndromes / genetics*
  • Neoplasms / genetics*
  • Phenotype


  • BRCA2 Protein