Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | |
| fr | Syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2 | |
| de | Vererbtes Krebsprädispositionssyndrom durch biallelische BRCA2-Genmutationen | |
| es | Síndrome de predisposición hereditaria al cáncer por mutaciones bialélicas en el gen BRCA2 | |
| it | Sindrome ereditaria da predisposizione al cancro da mutazioni bialleliche di BRCA2 | |
| nl | Hereditair kankerpredispositiesyndroom door biallelische BRCA2-mutaties | |
| pt | Sindrome de predisposição hereditária ao cancro por mutações bialélicas BRCA2 | |
| pl | Wrodzony zespół predyspozycji do nowotworzenia z powodu biallelicznych mutacji BRCA2 | |
| cs | Dědičný syndrom predispozice k rakovině způsobený bialelickou mutací BRCA2 | |
| uk | Спадковий синдром схильності до раку, зумовлений біалельними мутаціями BRCA2 | |
| zh | BRCA2双等位基因突变所致遗传性癌症易感综合征 | |
| tr | Bialelik BRCA2 mutasyonlarına bağlı kalıtsal kansere yatkınlık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605724 | BTNT | validated | |
| ICD-10 | D61.0 | NTBT | attributed | not yet validated |
| MONDO | 0011584 | E | validated | |
| MONDO | 11584 | E | validated | |
| UMLS | C4707792 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRCA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 15689453[PMID]_16825431[PMID]_14670928[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319462
- This record as JSON: /data/d/319462.json