Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Orpha code: 319462OMIM code: 605724

Definition

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.

Disease data
Classification

Disease

ORPHA code
319462
OMIM code
605724
ICD10 code
D61.0
ICD11 code
-

No additional description.

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