Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 MUTATION
BRCA1 MUTATION - Associated Disease
- Congenital malformation syndrome
- Source Database
- DisGeNET
- Description
- Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.
- Pubmed
- 25472942
- Section of the abstract supporting the evidence
- UNLABELLED
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs