Fanconi anemia is an inherited disease characterized by bone marrow failure, 
congenital malformations, and predisposition to cancer. The breast cancer 
susceptibility gene BRCA2 was recently found to be associated with Fanconi 
anemia complementation group D1 (FA-D1). We examined four kindreds afflicted 
with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, 
of Ashkenazi Jewish ancestry, had five members who were diagnosed with breast 
cancer and two cousins who were BRCA2*6174delT/C3069X compound heterozygotes and 
had Fanconi anemia and brain tumors. In another kindred of Ashkenazi Jewish and 
Lithuanian Catholic ancestry, a child with Fanconi anemia and a medulloblastoma 
was a BRCA2*6174delT/886delGT compound heterozygote. Two other kindreds each 
contained a Fanconi anemia-afflicted child who developed medulloblastoma; one 
child was of Latin American ancestry and a compound heterozygote for 
BRCA2*I2490T/ 5301insA and the other was African American and a compound 
heterozygote for BRCA2*Q3066X/E1308X. Median age of the Fanconi anemia-afflicted 
children at brain tumor diagnosis was 3.5 years. The co-occurrence of brain 
tumors, Fanconi anemia, and breast cancer observed in one of these kindreds 
constitutes a new syndromic association. Individuals who carry a germline BRCA2 
mutation and who plan to have children with a partner of Ashkenazi Jewish 
descent should consider undergoing genetic counseling.