Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 MUTATION
BRCA2 MUTATION - Associated Disease
- Fanconi anemia
- Source Database
- DisGeNET
- Description
- Although this report is based in a single family, it suggests that CRCs may be part of the tumour spectrum associated with FANCD1/BRCA2 biallelic mutations and that the presence of such mutations should be considered in families with CRCs, even in the absence of cardinal features of FA.
- Pubmed
- 24301060
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN,ORPHANET
- DisGENET score for the Gene Disease association
- 0.267359547253318
Drugs