Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE In conclusion, we found that XPG rs2094258, rs751402, and rs17655 do not influence the development of breast cancer in a Chinese population. 27323134 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs17655 G allele had a greatly increased risk of breast cancer. 24582975 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Overall, no significantly elevated breast cancer risk was found in all genetic models when all studies were pooled into the meta-analysis (for XPG Asp1104His Asp/His vs. Asp/Asp: OR 1.02, 95% CI 0.94-1.11; His/His vs. Asp/Asp: OR 0.96, 95% CI 0.83-1.11; dominant model: OR 1.01, 95% CI 0.94-1.09; and for XPF Arg415Gln Arg/Gln vs. Arg/Arg: OR 1.00, 95% CI 0.89-1.12; Gln/Gln vs. Arg/Arg: OR 2.40, 95% CI 0.62-9.22; dominant model: OR 1.03, 95% CI 0.90-1.18). 21424776 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. 20183911 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Of the 6 ERCC variants examined, only ERCC5 rs1</span>7655 showed a borderline main effect association with breast cancer risk (OR(GC) = 1.1, OR(CC) = 1.3; p-trend = 0.08), with some indication that individuals carrying the C allele variant were more susceptible to the effects of occupational radiation (EOR/Gy(GG) = 1.0, 95% CI = <0, 6.0; EOR/Gy(GC/CC) = 5.9, 95% CI = 0.9, 14.4; p(het) = 0.10). 18767034 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008