Familial ovarian carcinoma
diseaseOn this page
Also known as hereditary ovarian cancerhereditary ovarian carcinoma
Summary
Familial ovarian carcinoma (MONDO:0100514) is a cancer with 2 cohort genes (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 2 clinical trials.
At a glance
- Classification: Cancer
- Cohort genes: 2
- ClinVar variants: 1
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | familial ovarian carcinoma |
| Mondo ID | MONDO:0100514 |
| DOID | DOID:6901 |
| NCIT | C36102 |
| UMLS | C1333992 |
| MedGen | 272713 |
| GARD | 0026259 |
| Is cancer (heuristic) | yes |
Also known as: familial ovarian carcinoma · hereditary ovarian cancer · hereditary ovarian carcinoma
Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › epithelial neoplasm › ovarian epithelial tumor › malignant epithelial tumor of ovary › ovarian carcinoma › familial ovarian carcinoma
Related subtypes (8): ovarian adenocarcinoma, ovarian large-cell neuroendocrine carcinoma, ovarian squamous cell carcinoma, ovarian carcinosarcoma, ovarian small cell carcinoma, ovarian seromucinous carcinoma, ovarian transitional cell carcinoma, undifferentiated ovarian carcinoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 996829 | NM_058216.3(RAD51C):c.394A>C (p.Thr132Pro) | RAD51C | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 1 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| RAD51C | CIViC #4762 |
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| HELB | Limited | Autosomal dominant | familial ovarian carcinoma |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RAD51C | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| RAD51C | Orphanet:84 | Fanconi anemia |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| HELB | HGNC:17196 | ENSG00000127311 | Q8NG08 | DNA helicase B | gencc |
| RAD51C | HGNC:9820 | ENSG00000108384 | O43502 | DNA repair protein RAD51 homolog 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| HELB | DNA helicase B | 5’-3’ DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection. |
| RAD51C | DNA repair protein RAD51 homolog 3 | Essential for the homologous recombination (HR) pathway of DNA repair. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Enzyme (other) | 1 | 6.0× | 0.320 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| HELB | Enzyme (other) | yes | 3.6.4.12 | P-loop_NTPase, Coronavir_polyprotein_1ab, WHD_HELB |
| RAD51C | Other/Unknown | no | Rad51_C, DNA_recomb/repair_RecA-like, RecA_ATP-bd |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| bone marrow cell | 1 |
| colonic epithelium | 1 |
| primordial germ cell in gonad | 1 |
| right testis | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| HELB | 168 | ubiquitous | marker | male germ line stem cell (sensu Vertebrata) in testis, bone marrow cell, colonic epithelium |
| RAD51C | 281 | ubiquitous | marker | primordial germ cell in gonad, right testis, male germ line stem cell (sensu Vertebrata) in testis |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RAD51C | 3,396 |
| HELB | 1,646 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| RAD51C | O43502 | 17 |
| HELB | Q8NG08 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 2 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Impaired BRCA2 binding to PALB2 | 1 | 456.8× | 0.005 | RAD51C |
| Defective homologous recombination repair (HRR) due to BRCA1 loss of function | 1 | 423.0× | 0.005 | RAD51C |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | 1 | 423.0× | 0.005 | RAD51C |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | 1 | 423.0× | 0.005 | RAD51C |
| Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | 1 | 393.8× | 0.005 | RAD51C |
| Homologous DNA Pairing and Strand Exchange | 1 | 380.7× | 0.005 | RAD51C |
| Resolution of D-loop Structures through Holliday Junction Intermediates | 1 | 300.5× | 0.005 | RAD51C |
| Presynaptic phase of homologous DNA pairing and strand exchange | 1 | 271.9× | 0.005 | RAD51C |
| HDR through Homologous Recombination (HRR) | 1 | 190.3× | 0.006 | RAD51C |
| Meiotic recombination | 1 | 129.8× | 0.008 | RAD51C |
| Factors involved in megakaryocyte development and platelet production | 1 | 66.4× | 0.015 | RAD51C |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| meiotic DNA recombinase assembly | 1 | 8426.0× | 6e-04 | RAD51C |
| female meiosis sister chromatid cohesion | 1 | 8426.0× | 6e-04 | RAD51C |
| regulation of DNA double-strand break processing | 1 | 8426.0× | 6e-04 | HELB |
| DNA repair | 2 | 63.8× | 1e-03 | HELB, RAD51C |
| DNA replication, synthesis of primer | 1 | 1404.3× | 0.002 | HELB |
| telomere maintenance via recombination | 1 | 766.0× | 0.003 | RAD51C |
| sister chromatid cohesion | 1 | 383.0× | 0.005 | RAD51C |
| negative regulation of double-strand break repair via homologous recombination | 1 | 312.1× | 0.005 | HELB |
| positive regulation of G2/M transition of mitotic cell cycle | 1 | 300.9× | 0.005 | RAD51C |
| male meiosis I | 1 | 290.6× | 0.005 | RAD51C |
| reciprocal meiotic recombination | 1 | 280.9× | 0.005 | RAD51C |
| DNA recombination | 1 | 168.5× | 0.008 | RAD51C |
| DNA replication | 1 | 82.6× | 0.015 | HELB |
| double-strand break repair via homologous recombination | 1 | 78.0× | 0.015 | RAD51C |
| DNA damage response | 1 | 26.8× | 0.040 | HELB |
| spermatogenesis | 1 | 17.6× | 0.056 | RAD51C |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| HELB | 0 | 0 |
| RAD51C | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| HELB | 3.6.4.12 | DNA helicase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | HELB |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | RAD51C |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| HELB | 0 | — |
| RAD51C | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01230346 | Not specified | ACTIVE_NOT_RECRUITING | Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian Cancer |
| NCT04125914 | Not specified | ACTIVE_NOT_RECRUITING | Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families |