hereditary breast ovarian cancer syndrome
Findings
No curated finding names hereditary breast ovarian cancer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.
Definition from the Mondo Disease Ontology (MONDO:0003582), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Abnormal fallopian tube morphologyHPOHP:0011027
- Very frequent (80% to 99% of cases)
- Ovarian neoplasmHPOHP:0100615
- Very frequent (80% to 99% of cases)
- Primary peritoneal carcinomaHPOHP:0030406
- Very frequent (80% to 99% of cases)
- Breast carcinomaHPOHP:0003002
- Frequent (30% to 79% of cases)
- MelanomaHPOHP:0002861
- Occasional (5% to 29% of cases)
- Neoplasm of the pancreasHPOHP:0002894
- Occasional (5% to 29% of cases)
- Prostate cancerHPOHP:0012125
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
Where it sits
Other names
6 names
Resolves to: hereditary breast ovarian cancer syndrome
- Also called
- BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)familial breast and ovarian cancer syndromefamilial breast/ovarian cancer (BRCA1, BRCA2)hereditary breast and ovarian cancerHereditary Breast and Ovarian Cancer Syndromehereditary breast/ovarian cancer (BRCA1, BRCA2)