Fanconi anemia complementation group D1

Fanconi anemia complementation group D1 is a rare inherited syndrome that increases the risk of cancer. It is caused by having two faulty copies of the BRCA2 gene. This condition is part of the D1 subgroup of Fanconi anemia, and it is known for causing a high risk of certain childhood cancers, including Wilms tumor, medulloblastoma (a type of brain tumor), and blood cancers like acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). While people with this condition may experience progressive bone marrow failure, they can also have a range of other issues such as heart, brain, intestinal, or skeletal abnormalities. Compared to other forms of Fanconi anemia, bone marrow suppression and developmental problems are less common, but the cancer risk remains very high.

Common signs in people with Fanconi anemia complementation group D1 include progressive bone marrow failure and an increased risk of developing various childhood cancers. Some individuals may also experience heart, brain, intestinal, or skeletal abnormalities, although these developmental issues are less frequent compared to other forms of Fanconi anemia.

This condition is caused by mutations in both copies of the BRCA2 gene. These genetic changes interfere with the body’s ability to repair damaged DNA, which leads to an increased risk of developing cancer. The condition is inherited, meaning it is passed down from parents to their children.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. Ongoing studies aim to better understand the genetic causes and cancer risks associated with Fanconi anemia complementation group D1.