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hereditary breast ovarian cancer syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary breast ovarian cancer syndrome

MONDO:0003582

Also known as:BRCA1- and BRCA2-associated hereditary breast and ovarian cancerBRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)Hereditary Breast and Ovarian Cancer Syndrome

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Overview

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.

Clinical Trials21 registered · 9 recruiting

Clinical Presentation

Features include very common findings: Abnormal fallopian tube morphology, Primary peritoneal carcinoma, and Ovarian neoplasm; and common findings: Breast carcinoma. 7 total HPO annotations.

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Diagnosis

Biomarker and diagnostic research for hereditary breast ovarian cancer syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

21 clinical trials registered, 9 recruiting. Interventions under study include other interventions, procedural interventions, gene therapy, and biologic therapy. Pipeline includes 15 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07039552](https://clinicaltrials.gov/study/NCT07039552)

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Ovarian Cancer Program

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:145

GARD

Genetic and Rare Diseases Info Center

GARD:15010

Questions for Your Care Team

→Are any of the 21 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Research Type	Count	% of Total
Disease patterns and progression	32	25%
Research summaries	30	24%
Testing and diagnosis research	23	18%
Laboratory research	18	14%
Patient case studies	9	7%
Other research	6	5%
Clinical study results	4	3%
New treatment approaches	4	3%

Kisho

hereditary breast ovarian cancer syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Screening for Hereditary Cancer Syndromes.

hereditary breast ovarian cancer syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Screening for Hereditary Cancer Syndromes.