breast-ovarian cancer, familial, susceptibility to, 1
Findings
No curated finding names breast-ovarian cancer, familial, susceptibility to, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011450), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Breast carcinomaHPOHP:0003002
- Ovarian neoplasmHPOHP:0100615
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 · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
4 names
Resolves to: breast-ovarian cancer, familial, susceptibility to, 1
- Also called
- BRCA1 hereditary breast ovarian cancer syndromebreast-ovarian cancer, familial, 1, multifactorialbreast-ovarian cancer, familial, susceptibility to, type 1hereditary breast ovarian cancer syndrome caused by mutation in BRCA1