The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations PEDIATRIC BLOOD & CANCER Myers, K., Davies, S. M., Harris, R. E., Spunt, S. L., Smolarek, T., Zimmerman, S., McMasters, R., Wagner, L., Mueller, R., Auerbach, A. D., Mehta, P. A. 2012; 58 (3): 462-465

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.

View details for DOI 10.1002/pbc.23168

View details for Web of Science ID 000298953700027

View details for PubMedID 21548014