RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 Biomarker disease BEFREE These results suggest RAD51C as the first moderate-to-high risk susceptibility gene for ovarian cancer. 21616938 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 Biomarker disease BEFREE RAD51C was defined by Meindl et al. in 2010 as a high-risk gene involved in hereditary breast and ovarian cancers. 22451500 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 Biomarker disease BEFREE The rare finding of a clearly truncating RAD51C mutation in an early-onset BC patient with a BC-only family history supports the notion that compromised RAD51C function may result in both BC and OC. 27622768 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE Deleterious mutations in the RAD51C gene, which encodes a DNA double-strand break repair protein, have been reported to confer high-penetrance susceptibility to both breast and ovarian cancer. 22476429 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico pathogenicity predictions of missense changes. 28829762 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. 20400964 2010
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10(-7)). 24359560 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE Although the cumulative frequency of RAD51C and RAD51D truncating mutations in our patients was lower than that of the BRCA1 and BRCA2 genes, it may explain OC susceptibility in approximately 3% of high-risk OC patients. 26057125 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. 26261251 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE The results of pedigree analysis showed that the proband with a large deletion on RAD51C had a family history of both breast and ovarian cancer, and the families of probands with novel BRIP1 missense variants included a male patient with breast cancer or many patients with breast cancer within the second-degree relatives. 28796317 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation disease BEFREE A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect. 31782267 2020
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 Biomarker disease BEFREE An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. 22829014 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 Biomarker disease BEFREE Our analyses with pathological mutants of RAD51C that were identified in FA and breast and ovarian cancers reveal that RAD51C regulates HR and DNA damage signaling distinctly. 22167183 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 PosttranslationalModification disease BEFREE Promoter methylation of BRCA1 and RAD51C was evaluated using methylation-sensitive PCR in 332 primary ovarian carcinomas. 29233532 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer. 22383991 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. 22829014 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE One recent study identifies biallelic mutation in RAD51C leading to Fanconi anemia-like disorder. 20952512 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 29278735 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins. 20713514 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE RAD51C plays an important role in the double-strand break repair pathway and a biallelic missense mutation in the RAD51C gene was found in a Fanconi anemia-like disorder. 22725699 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia. 25154786 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE As further evidence for the functional importance of the HR complex, RAD51C mutants that are associated with cancer susceptibility and FA also display decreased complex formation with PALB2. 24141787 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE A new study reports biallelic mutations in RAD51C in a Fanconi anemia-like disorder, while a second study reports monoallelic mutations in the same gene associated with increased breast cancer risk. 20428093 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE RAD51C, a RAD51 paralogue involved in homologous recombination, is a recently established Fanconi anemia and breast cancer predisposing factor. 21750962 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE We found that MA-17 also down-regulated DNA homologous recombination and the Fanconi anemia pathway (FANCA, BRCA1, and RAD51C) in A549 cells. 30793218 2019