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

Rare Disease

hereditary site-specific ovarian cancer syndrome

MONDO:0016249

Overview

Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.

ResearchLimited published research (6 articles)

Diagnosis

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

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.

No clinical trials have been registered for hereditary site-specific ovarian cancer syndrome.

6 publications have been identified in PubMed for hereditary site-specific ovarian cancer syndrome. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (17%).

Recent Publications

Jurgiel WA (2026). [PMID: 41538105](https://pubmed.ncbi.nlm.nih.gov/41538105/). *Discover oncology*. [Review / Meta-Analysis]
Imamura T (2026). [PMID: 42186190](https://pubmed.ncbi.nlm.nih.gov/42186190/). *Hinyokika Kiyo*. [Case Report / Case Series]
Assavapokee N (2025). [PMID: 40114554](https://pubmed.ncbi.nlm.nih.gov/40114554/). *Journal of gynecologic oncology*. [Review / Meta-Analysis]
Gomes TT (2025). [PMID: 41109346](https://pubmed.ncbi.nlm.nih.gov/41109346/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Yoshino Y (2025). [PMID: 40224668](https://pubmed.ncbi.nlm.nih.gov/40224668/). *Bio-protocol*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:213524

GARD

Genetic and Rare Diseases Info Center

GARD:20468

Questions for Your Care Team

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hereditary site-specific ovarian cancer syndrome

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team