Genetic polymorphisms of XRCC1 and risk of gastric cancer

Lee, Seong-Gene; Kim, Byung-Sik; Choi, Jae-Won; Kim, Changhoon; Lee, Inchul; Song, Kyuyoung

doi:10.1016/s0304-3835(02)00381-6

Cited by 109 publications

(114 citation statements)

References 19 publications

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“…There have been studies showing an increased risk of esophageal squamous cell carcinoma in the presence of certain BER SNPs [12,29,31,32]. However, in our population of patients, we found no significant increase in risk for several individual BER SNPs or in a joint analysis under any model of inheritance.…”

Section: Discussioncontrasting

confidence: 86%

“…We also extend our findings to include novel positive associations with two other NER SNPs (ERCC1 8092C/A and ERCC1 118C/T). These findings are in keeping with the known association between NER pathway polymorphisms and alterations in DNA repair capacity [15,16,20,37], and in turn, the increased risk of various cancers associated with diminished repair capacity (e.g., squamous cell carcinoma of the esophagus [12,29,31], lung cancer [18,20,21], breast cancer [17,19], prostate cancer [14], and malignant melanoma [15]). ERCC1 8092C/A has been found to have positive associations in breast cancer risk [38,39], glioma risk [40], and a gene-smoking interaction in lung cancer risk [41].…”

Section: Discussionsupporting

confidence: 79%

“…Efficient repair of this damage through DNA repair enzymes helps to maintain DNA stability [12]. Functional variation in DNA repair capacity (DRC) through genetic variation such as single nucleotide polymorphisms (SNPs) of key repair genes is associated with a higher risk of developing various types of cancer [13][14][15][16][17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Tse

Zhai

Zhou

et al. 2008

Cancer Causes Control

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Purpose-Functional variation in DNA repair capacity through single nucleotide polymorphisms (SNPs) of key repair genes is associated with a higher risk of developing various types of cancer. Studies have focused on the nucleotide excision repair (NER) and base excision repair (BER) pathways. We investigated whether variant alleles in seven SNPs within these pathways increased the risk of esophageal adenocarcinoma. NIH Public Access Author ManuscriptCancer Causes Control. Author manuscript; available in PMC 2011 June 1. Results-Variant alleles in NER SNPs XPD Lys751Gln (AOR = 1.50, 95% CI 1.1-2.0), ERCC1 8092 C/A (AOR = 1.44, 95% CI 1.1-1.9), and ERCC1 118C/T (AOR = 1.42, 95% CI 1.0-1.9) were individually associated with esophageal adenocarcinoma risk. An increasing number of variant alleles in NER SNPs showed a significant trend with esophageal adenocarcinoma risk (p = 0.007).Conclusions-The presence of variant alleles in NER genes increases risk of esophageal adenocarcinoma. There is evidence of an additive role for SNPs along a common DNA repair pathway. Future larger studies of esophageal adenocarcinoma etiology should evaluate entire biological pathways.

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Section: Discussioncontrasting

confidence: 86%

Section: Discussionsupporting

confidence: 79%

Section: Introductionmentioning

confidence: 99%

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Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Tse

Zhai

Zhou

et al. 2008

Cancer Causes Control

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“…9,10 Three coding polymorphisms of the DNA repair gene XRCC1 (Arg194Trp, Arg280His and Arg399Gln) have been identified in man, suggesting altered efficiency due to amino acid substitutions. 11,12 Alcohol consumption has been associated with the production of reactive oxygen species, which are known to cause DNA lesions that can be removed by the DNA base-excision repair pathway. 13 Meta-analyses of alcohol consumption in relation to colorectal cancer have reported a small or moderate additional risk among alcohol drinkers.…”

mentioning

confidence: 99%

Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer

Hong

Lee

Kim

et al. 2005

Intl Journal of Cancer

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To evaluate contribution of polymorphisms of the XRCC1 gene to the risk of colorectal cancer, we conducted a case-control study of 209 colorectal cancer cases and 209 age-and gender-matched controls in the Korean population. We tested the hypothesis by constructing allele combinations with known SNP. Allelic variants of the XRCC1 gene at codons 194, 280 and 399 were analyzed in lymphocyte DNA by PCR-RFLP. We observed an increased risk of colorectal cancer associated with the 399Gln allele. The odds ratio (OR) was 1.61 (95% confidence interval [CI] 1.09-2.39) for the 399Gln allele. When combined allele-specific OR were calculated after estimating frequencies, 3 common allele combinations were found to be associated with an increased risk of colorectal cancer. The OR for the 194Trp-280Arg-399Arg was 1.48 (95% CI 5 1.06-2.07) using 194Arg-280Arg-399Arg as the reference. The OR for the 194Arg-280His-399Arg and the 194Arg-280Arg-399Gln were 1.78 (95% CI 5 1.09-2.89) and 1.78 (95% CI 5 1.23-2.59), respectively. Analysis after controlling for smoking, exercise and dietary habits indicated that alcohol consumption ( 80 g/week) is a significant risk factor of colorectal cancer (OR 5 2.60, 95% CI 5 1. 46-4.62). An increased risk for colorectal cancer was identified in alcohol drinkers with the risky allele combinations. Our results suggest that polymorphisms in the XRCC1 genes may contribute to colorectal cancer susceptibility, and some evidence was obtained of a genetic modification for the relationship between alcohol intake and colorectal cancer. ' 2005 Wiley-Liss, Inc.Key words: polymorphisms; XRCC1; genotype; allele; colorectal cancer; alcohol Colorectal cancer is one of the most commonly diagnosed cancers in North America and Western Europe, 1 and is the fourth most common cause of cancer in South Korea. 2 Inherited deficiencies in DNA repair have been associated with an individual's susceptibility to cancer. 3 Therefore, polymorphisms of DNA repair genes may increase the risk of colorectal cancer.The human XRCC1 gene, one of the DNA repair genes, was identified because of its ability to restore DNA repair activity in a Chinese hamster ovary mutant cell line EM9. 4 The XRCC1 protein is involved in base-excision repair, and interacts with DNA ligase III, DNA polymerase b, poly(ADP-ribose)polymerase (PARP), polynucleotide kinase and AP endonuclease I. 5-8 The base-excision repair pathway is designed to remove non-bulky base adducts, which are produced by methylation, oxidation or reduction by ionizing radiation or oxidative damage. 9,10 Three coding polymorphisms of the DNA repair gene XRCC1 (Arg194Trp, Arg280His and Arg399Gln) have been identified in man, suggesting altered efficiency due to amino acid substitutions. 11,12 Alcohol consumption has been associated with the production of reactive oxygen species, which are known to cause DNA lesions that can be removed by the DNA base-excision repair pathway. 13 Meta-analyses of alcohol consumption in relation to colorectal cancer have reported a small or moderate addit...

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“…Cancer epidemiologic studies revealed that there was significantly association between XRCC1 codon 399 glutamine(gln) and increased risks of lung cancer and breast cancer, but reduced or no risk of bladder cancer , esophageal cancer or skin cancer (Lee et al, 2001;Matullo et al, 2001;Nelson et al, 2002;Duell et al, 2011). But there were conflicting results related to the contribution of XRCC1 Arg399gln (XRCC1-399G/A) gene polymorphism to cervical carcinoma especially in Asian populations .…”

Section: Introductionmentioning

confidence: 99%

Gene Polymorphism of XRCC1 Arg399Gln and Cervical Carcinoma Susceptibility in Asians: A Meta-analysis Based on 1,759 Cases and 2,497 Controls

Liu¹,

Shi²,

Fu³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Genetic polymorphisms of XRCC1 and risk of gastric cancer

Cited by 109 publications

References 19 publications

Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk

Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer

Gene Polymorphism of XRCC1 Arg399Gln and Cervical Carcinoma Susceptibility in Asians: A Meta-analysis Based on 1,759 Cases and 2,497 Controls

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