Familial ovarian cancer: genes and variants
Familial ovarian cancer is linked to 3 analyzed proteins (BRIP1, RAD51C and RAD51D). 5 DNA variants are known to cause it; 82 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial ovarian cancer
BRIP1: Fanconi anemia group J protein
It unwinds DNA structures and works with BRCA1 and the Fanconi-anemia pathway to repair damaged replication intermediates and interstrand crosslinks. Biallelic loss causes Fanconi anemia group J, while heterozygous loss-of-function variants increase ovarian-cancer risk.
2 disease-causing and 36 uncertain variants in BRIP1 are linked to Familial ovarian cancer.
RAD51C: DNA repair protein RAD51 homolog 3
It participates in RAD51-paralog complexes that promote homologous-recombination repair and restart damaged replication forks. Heterozygous loss-of-function variants increase ovarian and breast-cancer risk, while biallelic variants can cause Fanconi anemia.
2 disease-causing and 24 uncertain variants in RAD51C are linked to Familial ovarian cancer.
RAD51D: DNA repair protein RAD51 homolog 4
It supports RAD51-mediated homologous recombination and chromosome stability after DNA double-strand breaks. Heterozygous loss-of-function variants confer substantial ovarian-cancer risk and a more moderate increase in breast-cancer susceptibility.
1 disease-causing and 21 uncertain variants in RAD51D are linked to Familial ovarian cancer.
Weakly linked (only a few uncertain records): PTEN.
Known disease-causing variants in Familial ovarian cancer
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RAD51D S207L | 207 | Disease-causing (★★) | |
| RAD51C L138F | 138 | Disease-causing (★★) | |
| RAD51C R258H | 258 | Disease-causing (★★) | |
| BRIP1 Q255H | 255 | Helicase ATP-binding | Disease-causing (★) |
| BRIP1 Q793H | 793 | Disease-causing (★) |
Same protein, different disease
- Breast-ovarian cancer, familial, susceptibility to, 1 is also caused by RAD51C variants; they fall mostly in different places as the Familial ovarian cancer variants (9 disease-causing).
- Fanconi anemia complementation group O is also caused by RAD51C variants; they fall mostly in different places as the Familial ovarian cancer variants (4 disease-causing).
- Hereditary breast ovarian cancer syndrome is also caused by RAD51C variants; they fall mostly in different places as the Familial ovarian cancer variants (3 disease-causing).
Diseases related to Familial ovarian cancer
- Ovarian cancer, also linked to BRIP1, RAD51C and RAD51D
- Gastric cancer, also linked to BRIP1, RAD51C and RAD51D
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to BRIP1, RAD51C and RAD51D
- Hereditary breast ovarian cancer syndrome, also linked to BRIP1, RAD51C and RAD51D
- Breast and/or ovarian cancer, also linked to BRIP1, RAD51C and RAD51D
- Fanconi anemia, also linked to BRIP1 and RAD51C
- Familial cancer of breast, also linked to BRIP1
- Ovarian neoplasm, also linked to BRIP1
- Fanconi anemia complementation group O, also linked to RAD51C
- Fanconi anemia complementation group J, also linked to BRIP1
- RAD51C-related cancer predisposition, also linked to RAD51C
Frequently asked questions
Which genes are linked to Familial ovarian cancer?
In CATVariant, Familial ovarian cancer is linked to 3 analyzed proteins: BRIP1 (Fanconi anemia group J protein), RAD51C (DNA repair protein RAD51 homolog 3) and RAD51D (DNA repair protein RAD51 homolog 4).
How many genetic variants are linked to Familial ovarian cancer?
94 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 82 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial ovarian cancer look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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