XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.090 Biomarker disease BEFREE We performed T cell cloning experiments with a tumor-infiltrating lymphocyte subpopulation derived from a renal cell carcinoma tumor site (RCC-7) in which the TCR clonotypic repertoire had been analyzed in terms of TCRBV complementarity-determining region 3 size distribution. 9973436 1999
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.070 Biomarker disease BEFREE We performed T cell cloning experiments with a tumor-infiltrating lymphocyte subpopulation derived from a renal cell carcinoma tumor site (RCC-7) in which the TCR clonotypic repertoire had been analyzed in terms of TCRBV complementarity-determining region 3 size distribution. 9973436 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 Biomarker disease BEFREE As one of the hypotheses for the pathogenesis of brain damage in DS is oxidative stress and cells of patients with DS are more susceptible to ionizing irradiation, we decided to study ERCC2, ERCC3 and XRCC1, representatives of repair genes known to be involved in the repair of oxidative DNA-damage. mRNA steady state levels of ERCC2, ERCC3, XRCC1, a transcription activator (TAF-DBP) and an elongation factor (EF1A) were determined and normalized versus the housekeeping gene beta-actin in five individual brain regions of nine controls and nine DS patients. 10328528 1999
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE As one of the hypotheses for the pathogenesis of brain damage in DS is oxidative stress and cells of patients with DS are more susceptible to ionizing irradiation, we decided to study ERCC2, ERCC3 and XRCC1, representatives of repair genes known to be involved in the repair of oxidative DNA-damage. mRNA steady state levels of ERCC2, ERCC3, XRCC1, a transcription activator (TAF-DBP) and an elongation factor (EF1A) were determined and normalized versus the housekeeping gene beta-actin in five individual brain regions of nine controls and nine DS patients. 10328528 1999
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.100 GeneticVariation disease BEFREE To test this hypothesis, we conducted a case-control study of 203 SCCHN patients and 424 control subjects (matched for age, sex and ethnicity) to investigate the role of two XRCC1 polymorphisms (XRCC1 26304 T and XRCC1 28152 A, respectively) in SCCHN. 10545415 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE We believe that this new primary RCC-AJR cell line will prove a useful model for investigating the cascade of genetic events in renal cells that leads to renal carcinogenesis. 10782890 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease BEFREE In a pilot case-control study, we tested the hypothesis that polymorphisms in the gene for the DNA repair enzyme XRCC1 are associated with increased risk of colorectal cancer among Egyptians. 10974409 2000
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 GeneticVariation disease BEFREE In a pilot case-control study, we tested the hypothesis that polymorphisms in the gene for the DNA repair enzyme XRCC1 are associated with increased risk of colorectal cancer among Egyptians. 10974409 2000
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE We used a polymerase chain reaction-based assay to detect Pvu II and Nci I restriction fragment length polymorphisms (XRCC1 26304 C-->T and XRCC1 28152 G-->A, respectively) in 188 patients with gastric cancer and 166 healthy controls. 11058877 2000
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.100 GeneticVariation disease BEFREE We used a polymerase chain reaction-based assay to detect Pvu II and Nci I restriction fragment length polymorphisms (XRCC1 26304 C-->T and XRCC1 28152 G-->A, respectively) in 188 patients with gastric cancer and 166 healthy controls. 11058877 2000
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0.050 GeneticVariation disease BEFREE However, the XRCC1 26304 CC genotype was associated with a significantly increased risk for gastric cardia cancer (adjusted OR=1.86, 95% CI=1.09-3.20). 11058877 2000
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.040 GeneticVariation disease BEFREE XRCC1 genotypes were assessed at codon 399 in 172 cases of lung adenocarcinoma and 143 cancer-free controls. 11104903 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation disease BEFREE Polymorphisms of XRCC1 appear to influence risk of lung cancer and may modify risk attributable to environmental exposures. 11219768 2001
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation disease BEFREE Polymorphisms of XRCC1 appear to influence risk of lung cancer and may modify risk attributable to environmental exposures. 11219768 2001
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation disease BEFREE Polymorphisms of XRCC1 appear to influence risk of lung cancer and may modify risk attributable to environmental exposures. 11219768 2001
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 GeneticVariation disease BEFREE We tested whether polymorphisms in XRCC1 were associated with bladder cancer risk and whether this association was modified by cigarette smoking. 11219769 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.100 GeneticVariation disease BEFREE We tested whether polymorphisms in XRCC1 were associated with bladder cancer risk and whether this association was modified by cigarette smoking. 11219769 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.100 GeneticVariation disease BEFREE We tested whether polymorphisms in XRCC1 were associated with bladder cancer risk and whether this association was modified by cigarette smoking. 11219769 2001
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 GeneticVariation disease BEFREE The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), XRCC3 (Thr241Met), XPD (Ile199Met, His201Tyr, Asp312Asn and Lys751Gln) and XPF (Pro379Ser) genes were studied in 96 non-small-cell lung cancer (NSCLC) cases and in 96 healthy controls matched for age, gender and cigarette smoking. 11285194 2001
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 Biomarker disease BEFREE XPD and XRCC1 appear to have no impact on the risk of bladder cancer. 11304692 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.100 Biomarker disease BEFREE XPD and XRCC1 appear to have no impact on the risk of bladder cancer. 11304692 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.100 Biomarker disease BEFREE XPD and XRCC1 appear to have no impact on the risk of bladder cancer. 11304692 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE We hypothesized that the polymorphic XRCC1 genes might modify cancer susceptibility of the esophagus. 11400117 2001