Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 MUTATION
BRCA2 MUTATION - Associated Disease
- nephroblastoma
- Source Database
- DisGeNET
- Description
- A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events.
- Pubmed
- 25455269
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD
- DisGENET score for the Gene Disease association
- 0.122909915722763
Drugs