Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE High-dose radiation to the chest was more strongly associated with breast cancer among white women with XRCC1 codon 399 Arg/Arg genotype. 11303590 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE One genetic polymorphism (G-->A, Arg-->Gln at codon 399) occurs within a poly(ADP-ribose) polymerase binding region and within the central breast cancer susceptibility gene 1 product COOH terminus domain of XRCC1. 12183419 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Although larger studies are needed to validate the study results, our data suggest that amino acid substitution variants of XRCC1 and XRCC3 genes may contribute to breast cancer susceptibility. 12565173 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Distinct combinations of XRCC1 polymorphisms appear to be associated with either an increased BC risk or the possibility of developing an adverse radiotherapy response seen in some BC patients. 14652276 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE In addition, breast cancer risk was significantly associated with an increasing number of combined variant alleles of XRCC1 Arg194Trp, XRCC3 Thr241Met, and ERCC4/XPF Arg415Gln in a four-level model (P(trend) = 0.04): OR = 1.0 for those without a variant allele (referent group); OR = 1.04 (95% CI = 0.67-1.61) for those with one variant allele; OR = 1.38 (95% CI = 0.83-2.29) for those with two variant alleles; and age-adjusted OR = 2.60 (95% CI = 1.03-6.59) for those with three or more variant alleles after adjustment for age, family history, age at menarche, age at first live birth, and body mass index. 14652281 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE We further investigated gene-environment interactions between the XRCC1 variations and plasma carotenoids on breast cancer risk. 14679022 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE We evaluated the association between XRCC1 Arg399Gln polymorphism and breast cancer risk in the population-based Shanghai Breast Cancer Study involving 1088 cancer patients and 1182 community controls. 14693738 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The inverse association between XRCC1 194Trp and breast cancer risk was attenuated by lower plasma folate status. 15066914 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Estimates of risk for a family history (FH) of breast cancer compared with no FH differed by XRCC1-R399Q genotype (P value for interaction = 0.001). 15066923 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. 15113441 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Our results do not support evidence for a role of the XRCC1 polymorphism in developing breast cancer. 15665590 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Our preliminary results based on the analysis of functionally relevant polymorphisms in XRCC1 low penetrance gene may provide a better model that would exhibit additive effects on individual susceptibility to breast cancer. 15666192 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Using the Long Island Breast Cancer Study Project, a population-based case-control study, we evaluated the hypothesis that two common single nucleotide polymorphisms of XRCC1 (codon 194 Arg-->Trp and 399 Arg-->Gln) influence breast cancer susceptibility and interact with polycyclic aromatic hydrocarbon (PAH)-DNA adducts, cigarette smoking, and intake of fruits and vegetables and antioxidants. 15734955 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Additionally, we summarized breast cancer risk associated with the following genetic factors: breast cancer susceptibility high-penetrance genes (BRCA1, BRCA2, p53, PTEN, ATM, NBS1 or LKB1) and low-penetrance genes such as cytochrome P450 genes (CYP1A1, CYP2D6, CYP19), glutathione S-transferase family (GSTM1, GSTP1), alcohol and one-carbon metabolism genes (ADH1C and MTHFR), DNA repair genes (XRCC1, XRCC3, ERCC4/XPF) and genes encoding cell signaling molecules (PR, ER, TNFalpha or HSP70). 15784178 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE However, a significant increase in breast cancer risk was seen among ever smoking women if they carried at least one XRCC1-399 Gln allele (OR 2.33, 95% CI 1.30-4.19, pint 0.025) or XPD-751 Gln/Gln genotype (OR 2.52, 95% CI 1.27-5.03, pint 0.011) compared to smoking women not carrying these genotypes. 16280050 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE No significant association was observed between the XPD 751Gln/Lys (OR 1.37, 95% CI 0.96-1.96) and Gln/Gln genotypes (OR 1.08, 95% CI 0.62-1.86) (referent Lys/Lys), XRCC1 399Arg/Gln (OR 1.48, 95% CI 0.92-2.38) and Gln/Gln genotypes (1.11, 95% CI 0.67-1.83) (referent Arg/Arg) or the XRCC1 Arg/Trp and Trp/Trp genotypes (OR 1.12, 95% CI 0.69-1.83) (referent Arg/Arg) and breast cancer. 16319991 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE These findings suggest that the ADPRT Val762Ala and XRCC1 Arg399Gln polymorphisms may not play a role in the etiology of breast cancer. 16328064 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE We also examined whether factors associated with DNA damage, such as smoking and antioxidant intake, modified the association between XRCC1 polymorphisms and breast cancer. 16457697 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Meta-analyses based on our data and published data from studies of two single nucleotide polymorphisms in XRCC1 showed no evidence of an overall association between breast cancer risk and homozygous variants versus wild-type for Q399R (OR, 1.1; 95% CI, 1.0-1.2) or R194W (OR, 1.0; 95% CI, 0.7-1.8), although there was a suggestion for an association in Asian populations for Q399R (OR, 1.6; 95% CI, 1.1-2.4; P = 0.02). 16492928 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE In the CBCS, positive associations were observed between breast cancer and smoking dose for participants with XRCC1 codon 194 Arg/Arg (P(trend) = 0.046), 399 Arg/Arg (P(trend) = 0.012), and 280 His/His or His/Arg (P(trend) = 0.047) genotypes. 16510609 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE XRCC1 R399Q was not associated with breast cancer (O.R.1.00, 95% C.I.0.61-1.64). 16596326 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE These results suggest that independently these polymorphisms of XRCC1 and XRCC3 genes do not contribute significantly to the genetic susceptibility of breast cancer. 16963196 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE We observed that women carriers of XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease (OR = 0.54 95% CI 0.35-0.84; p = 0.006). 17063276 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE We retrospectively evaluated the association of SNPs in DNA repair genes, XRCC1-01 (Arg399Gln) and XRCC3-01 (Thr241Met), and a cell cycle control gene, CCND1-02 (A870G), with progression-free survival (PFS) and breast cancer specific survival (BCSS) in patients with metastatic breast cancer (MBC). 17116943 2006