BRCA2 and Fanconi anemia: Biallelic (i.e., homozygous/compound heterozygous) mutations in the BRCA2 cause Fanconi anemia (FANCD1, MIM# 605724), a recessive, congenital genomic instability syndrome generally characterized by bone marrow failure, developmental abnormalities in various organ systems and a high predisposition for hematological or solid tumors.