Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 MUTATION
BRCA2 MUTATION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- De novo Alu element insertions were identified within the BRCA2 coding sequences in 3 out of 50 Portuguese families. However, the segregation data and mRNA results in this study were conflicting or inconclusive.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1758
- Gene URL
- https://civic.genome.wustl.edu/links/genes/7
- Variant URL
- https://civic.genome.wustl.edu/links/variants/708
- Rating
- 1
- Evidence Type
- Predisposing
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 16088935
Drugs