Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.