RAD51, RAD51 recombinase, 5888

N. diseases: 363; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		0.610 GeneticVariation disease BEFREE This DNA end protection is not observed with the RAD51 mutant from FANCR patient cells. 27694619 2016
CUI: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		0.610 GeneticVariation disease CLINVAR
CUI: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		0.610 GeneticVariation disease UNIPROT A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. 26253028 2015
CUI: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		0.610 GeneticVariation disease UNIPROT A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. 26681308 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE This meta-analysis suggests that RAD51 variant 135C homozygote is associated with elevated breast cancer risk among BRCA2 mutation carriers. 24040396 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women. 16624550 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE RAD51 135G>C showed statistically significant association of CC genotype and increased breast cancer risk (OR 10.28, 95 % CI 1.12-94.5) in hereditary group of patients compared to the control group. 24114315 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE Altogether, our data suggest that RAD51 tolerates so little dysfunctional sequence variation that rare variants in the gene contribute little, if anything, to breast cancer susceptibility. 23300655 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE In summary, our meta-analysis suggested the RAD51 135G > C polymorphism may contribute to breast cancer susceptibility. 20396943 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE In conclusion, the RAD51 135G > C substitution in the homozygous form (CC) increases the risk of breast cancer in an ethnic-specific manner. 26108708 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan. 25556451 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE In summary, the present meta-analysis suggests that the RAD51 135G>C does not modify breast cancer risk in non-BRCA1/2 mutation carriers. 20461453 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE We demonstrate that the fusion of Rad51 promoter to diphtheria toxin A (DTA) gene kills a variety of cancer cell types, including breast cancer, fibrosarcoma, and cervical cancer cells, with minimal effect on normal breast epithelial cells and normal fibroblasts. 19106292 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE 25% of breast cancer cases displayed LOH for at least one studied marker in the RAD51 region exclusively. 17180310 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE This study investigates the role of 3 nonsynonymous SNPs in the DNA repair genes XRCC1 (R399Q), RAD51 (G135C) and TP53 (Arg72Pro) in breast cancer in Serbian women. 26954070 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE In a second set of 466 mutation carriers from three centers, the association of RAD51:135 g-->c with breast cancer risk was not confirmed. 11535547 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease UNIPROT Tumor-associated mutations in a conserved structural motif alter physical and biochemical properties of human RAD51 recombinase. 25539919 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE The involvement of abnormalities of the BRCA1 gene in breast cancers in Japanese patients without any family history of this cancer was investigated by polymerase chain reaction-based single-strand conformation polymorphism analysis of the DNA sequences corresponding to the zinc finger domain (exons 2, 3 and 5) and the binding domain with Rad51 (exon 11) of the BRCA1 protein. 9765620 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE These differences in the DNA-binding properties between HsRad51(R150Q) and HsRad51 may be important to account for the tumorigenesis in breast cancer patients with the HsRad51(R150Q) mutation. 17666788 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE A single nucleotide polymorphism in the 5'- untranslated region of RAD51 (a G to C substitution at position 135, the G/C polymorphism) is reported to modulate breast cancer risk. 12673366 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE There was a significant association of breast cancer risk with RAD51 GG and CC polymorphism. 23065228 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE Thus, we propose that RAD51 135G>C polymorphism presents an increased risk of familial BC in women with age < 50 years at diagnosis, and this polymorphism may be a BC risk variant. 17889711 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE The results indicate that dinucleotide CA repeat polymorphism at RAD51 and BRCA2 gene regions might be associated with genetic susceptibility to breast cancer. 18429825 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE Mutations in proteins that control presynaptic filament assembly, such as BRCA2, and in RAD51 itself, are associated with human breast cancer. 27153211 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE We aimed to assess the effect of 135G/C of RAD51 on breast cancer susceptibility with the use of a meta-analysis. 20640595 2011