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Fanconi anemia complementation group D1

MONDO:0011584

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

Also known as: FAD1, FANCD1, Fanconi anemia complementation group D1, Fad1, Fanconi anemia, complementation group D1, inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

18 clinical trials for this condition and its sub-types, 6 tagged with Fanconi anemia complementation group D1 itself.

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