Fanconi anemia (FA) is a condition that usually presents in childhood with physical abnormalities and increased risk of cancer. Individuals with this condition can also have developmental delay and bone marrow failure. There is an increased risk for hematologic malignancies (cancers of the blood, lymph nodes and bone marrow) and solid tumors.
Fanconi Anemia can be caused by mutations in several different genes including BRCA2. An individual who carries two mutations in BRCA2 (one on each copy of the gene) has Fanconi Anermia. In this instance, the individual inherited one mutation in BRCA2 from each parent. Couples who each carry a single BRCA2 mutation have a 1 in 4 or 25% risk to have a child with Fanconi Anemia. We recommend couples who each carry a BRCA2 mutation to see a genetic counselor who specializes in prenatal genetics either during or prior to pregnancy to discuss available testing options and to learn more about this condition.