Fanconi anemia complementation group D1
MONDO:0011584Inherited 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
14 clinical trials for this condition and its sub-types.
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Blood transfusion thresholds tested to save elderly surgical patients
Disease control CompletedThis study tests whether giving blood transfusions more liberally (when hemoglobin drops to 9 g/dL) versus more restrictively (when it drops to 7.5 g/dL) reduces death and serious complications like heart attack, stroke, or kidney injury in patients aged 70 and older undergoing n…
Phase: PHASE3 • Sponsor: Johann Wolfgang Goethe University Hospital • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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New drug combo shows promise for Hard-to-Treat cancers
Disease control CompletedThis early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…
Phase: PHASE1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 12:32 UTC
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Anemia in kids may be tied to bigger hearts, study finds
Knowledge-focused CompletedThis study explored whether low hemoglobin (anemia) is linked to an enlarged heart (cardiomegaly) in children up to 18 years old. Researchers used chest X-rays and echocardiograms to check for heart enlargement in 56 anemic children. The goal was to better understand how anemia a…
Sponsor: Universitas Sumatera Utara • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC