BRCA1-related cancer predisposition
MONDO:0700268Mondo
Findings
No curated finding names BRCA1-related cancer predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.
Definition from the Mondo Disease Ontology (MONDO:0700268), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BRCA1HGNC:1100
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of