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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAD51C
RAD51 paralog C
Chromosome 17 Β· 17q22
NCBI Gene: 5889Ensembl: ENSG00000108384.16HGNC: HGNC:9820UniProt: A0A8V8TML8
155PubMed Papers
22Diseases
0Drugs
346Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
four-way junction DNA bindingcrossover junction DNA endonuclease activitynucleoplasmcytoplasmHereditary breast and ovarian cancer syndromeFanconi anemiaovarian cancerhereditary breast ovarian cancer syndrome
✦AI Summary

RAD51C is an essential component of homologous recombination (HR) DNA repair, functioning as part of two distinct RAD51 paralog complexes: BCDX2 (RAD51B-RAD51C-RAD51D-XRCC2) and CX3 (RAD51C-XRCC3) 1. The BCDX2 complex orchestrates RAD51 nucleoprotein filament assembly on single-stranded DNA, stimulating both nucleation and extension of RAD51 filaments essential for double-strand break repair and replication fork protection 1. RAD51C exhibits coupled ATPase activity with RAD51B and contains a critical ATP-binding domain where deleterious missense variants cluster 2. The protein facilitates early HR stages including RAD51 foci formation and CHEK2 phosphorylation for damage signaling, while also participating in late-stage branch migration and Holliday junction resolution 3. Pathogenic RAD51C variants confer moderate breast cancer risk (OR=3.92) and high ovarian cancer risk (OR=14.8 for missense variants; OR=5.59 overall for truncating variants) 24. Cumulative risks to age 80 reach 21% for breast cancer and 11% for tubo-ovarian carcinoma in carriers 5. Homozygous RAD51C mutations cause Fanconi anemia complementation group O 3. Functional mapping of 9,188 variants achieved >99.9% classification accuracy, identifying hypomorphic alleles and resolving cancer-segregating variants 6.

Sources cited
1
BCDX2 complex structure and function in orchestrating RAD51 filament assembly on ssDNA with coupled ATPase activities of RAD51B and RAD51C
PMID: 37344587
2
ATP-binding hotspot in RAD51C with deleterious missense variants conferring moderate breast cancer and high ovarian cancer risks
PMID: 37253112
3
RAD51C as HR pathway gene involved in inherited cancer susceptibility and Fanconi anemia complementation group O
PMID: 35008774
4
RAD51C mutations confer high ovarian cancer risk (OR=5.59) as one of the most important ovarian cancer risk genes after BRCA1/2
PMID: 32359370
5
Age-specific tubo-ovarian carcinoma and breast cancer risks for RAD51C pathogenic variant carriers with cumulative risks of 11% and 21% to age 80
PMID: 32107557
6
Saturation genome editing functional mapping of 9,188 RAD51C variants with >99.9% accuracy for variant classification and identification of hypomorphic alleles
PMID: 39299233
Disease Associationsβ“˜22
Hereditary breast and ovarian cancer syndromeOpen Targets
0.81Strong
Fanconi anemiaOpen Targets
0.80Strong
ovarian cancerOpen Targets
0.66Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.66Moderate
Fanconi anemia complementation group OOpen Targets
0.63Moderate
cancerOpen Targets
0.63Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
ovarian carcinomaOpen Targets
0.55Moderate
gastric cancerOpen Targets
0.53Moderate
breast carcinomaOpen Targets
0.52Moderate
ovarian neoplasmOpen Targets
0.52Moderate
familial ovarian cancerOpen Targets
0.51Moderate
breast cancerOpen Targets
0.50Moderate
breast-ovarian cancer, familial, susceptibility to, 1Open Targets
0.44Moderate
hereditary site-specific ovarian cancer syndromeOpen Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Breast-ovarian cancer, familial, 3UniProt
Fanconi anemia complementation group OUniProt
Pathogenic Variants346
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 3|Breast carcinoma|Gastric cancer|Inherited breast cancer and ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 237
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|Ovarian neoplasm|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 1|RAD51C-related disorder|RAD51C-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 75
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Malignant tumor of breast|not provided|Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 234
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_058216.3(RAD51C):c.905-2_905-1delPathogenic
Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 332
NM_058216.3(RAD51C):c.904+5G>TPathogenic
Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Hereditary site-specific ovarian cancer syndrome|Breast and/or ovarian cancer|RAD51C-related disorder|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Familial ovarian cancer
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3|RAD51C-related disorder|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|RAD51C-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 61
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)Pathogenic
Breast-ovarian cancer, familial, susceptibility to, 3|Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome|not provided|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome|RAD51C-related disorder|RAD51C-related cancer predisposition|Inherited breast cancer and ovarian cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 133
NM_058216.3(RAD51C):c.1026+5_1026+7delPathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Hereditary breast ovarian cancer syndrome|Hereditary site-specific ovarian cancer syndrome|Breast and/or ovarian cancer|Uterine corpus cancer|Hereditary cancer|Inherited breast cancer and ovarian cancer|RAD51C-related cancer predisposition
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)Pathogenic
not provided|Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 132
NM_058216.3(RAD51C):c.706-2A>GPathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Ovarian neoplasm|Hereditary breast ovarian cancer syndrome|RAD51C-related disorder|Familial ovarian cancer|Long QT syndrome
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.93del (p.Phe32fs)Pathogenic
Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|not specified|Ovarian neoplasm|Inherited ovarian cancer (without breast cancer)|RAD51C-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 32
NM_058216.3(RAD51C):c.965+2T>GLikely pathogenic
Familial ovarian cancer|Fanconi anemia complementation group O
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 135
NM_058216.3(RAD51C):c.146-4_146-2delLikely pathogenic
Hereditary cancer-predisposing syndrome|Carcinoma of colon|Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3|Hereditary breast ovarian cancer syndrome|RAD51C-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 62
NM_058216.3(RAD51C):c.905-2A>CPathogenic
Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Gastric cancer|not provided|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)Pathogenic
Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 33
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|not provided|Breast-ovarian cancer, familial, susceptibility to, 3;Fanconi anemia complementation group O|Hereditary breast ovarian cancer syndrome|RAD51C-related disorder|Breast carcinoma|Breast-ovarian cancer, familial, susceptibility to, 3|Inherited ovarian cancer (without breast cancer)|RAD51C-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 193
View on ClinVar β†—
Related Genes
FANCMProtein interaction100%FANCIProtein interaction100%FANCLProtein interaction100%EXO1Protein interaction100%MSH2Protein interaction100%MSH6Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
95%
Bone Marrow
80%
Ovary
47%
Lung
32%
Liver
31%
Gene Interaction Network
Click a node to explore
RAD51CFANCMFANCIFANCLEXO1MSH2MSH6
PROTEIN STRUCTURE
Preparing viewer…
PDB8OUZ Β· 2.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.69–1.14]
RankingsWhere RAD51C stands among ~20K protein-coding genes
  • #2,920of 20,598
    Most Researched155 Β· top quartile
  • #169of 5,498
    Most Pathogenic Variants346 Β· top 5%
  • #11,811of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedRAD51C
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Patterns and functional implications of rare germline variants across 12 cancer types.
PMID: 26689913
Nat Commun Β· 2015
1.00
2
Homologous Recombination Deficiencies and Hereditary Tumors.
PMID: 35008774
Int J Mol Sci Β· 2021
0.90
3
High-resolution functional mapping of RAD51C by saturation genome editing.
PMID: 39299233
Cell Β· 2024
0.80
4
Breast cancer genes: beyond BRCA1 and BRCA2.
PMID: 23747889
Front Biosci (Landmark Ed) Β· 2013
0.70
5
PMID: 20301575
0.68