Large-Scale Investigation of Base Excision Repair Genetic Polymorphisms and Lung Cancer Risk in a Multicenter Study

Hung, Rayjean J.; Brennan, Paul M.; Canzian, Federico; Szeszenia-Da̧browska, Neonila; Заридзе, Давид; Lissowska, Jolanta; Rudnai, Péter; Fabiánovà, Eleonóra; Mateș, Dana; Foretová, Lenka; Janout, Vladimí­r; Bencko, Vladimír; Chabrier, Amélie; Borel, Stéphane; Hall, Janet; Boffetta, Paolo

doi:10.1093/jnci/dji101

Cited by 162 publications

(150 citation statements)

References 41 publications

(28 reference statements)

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“…Results of a number of studies examining the role of the hOGG1 Ser326Cys polymorphism in lung cancer susceptibility conducted to date have been inconsistent. [7][8][9][10][11][12]17 Our case-control study showed a significant association between hOGG1 Ser326Cys polymorphism and lung cancer overall, supporting the potential effect of this polymorphism on lung cancer susceptibility. Because the question of whether the effect of this polymorphism differed by histology remained unanswered, we also conducted a meta-analysis with consideration to histology.…”

Section: Discussionmentioning

confidence: 52%

“…Among the 65 papers identified through this process, 7 were considered eligible. 5,[7][8][9][10][11]17 Two investigators (TO and KM) abstracted the data independently. We used OR from a random-effect model as a summary statistic for association.…”

Section: Meta-analysismentioning

confidence: 99%

“…One meta-analysis showed that the overall odds ratio (OR) of homozygotes for the hOGG1-326Cys allele against those for the hOGG1-326Ser allele was 1.24 (95% confidence interval (CI)¼1.01-1.53), suggesting that the locus is involved in susceptibility to overall lung cancer. 17 In contrast, another meta-analysis reported no significant association. 15 A recent pooled analysis from the International Lung Cancer Consortium involving a substantial number of cases and controls showed a suggestive association for this polymorphism in Caucasians.…”

Section: Introductionmentioning

confidence: 97%

“…Activity in the repair of 8-hydroxyguanine is greater with the hOGG1-Ser326 protein than the hOGG1-Cys326 protein, 5 and the possible contribution of this locus to the risk of a variety of human cancers has been reported. 6 A number of studies [7][8][9][10][11][12][13][14] and systematic approaches [15][16][17] have examined the role of the Ser326Cys polymorphism in lung cancer susceptibility. One meta-analysis showed that the overall odds ratio (OR) of homozygotes for the hOGG1-326Cys allele against those for the hOGG1-326Ser allele was 1.24 (95% confidence interval (CI)¼1.01-1.53), suggesting that the locus is involved in susceptibility to overall lung cancer.…”

Section: Introductionmentioning

confidence: 99%

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hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

et al. 2009

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Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, shows functional differences, namely a decrease in enzyme activity in hOGG1-Cys326. Although several studies have investigated the association between rs1052133 and lung cancer susceptibility, the effect of this locus on lung cancer according to histology remains unclear. We therefore conducted a case-control study with 515 incident lung cancer cases and 1030 age-and sex-matched controls without cancer, and further conducted a meta-analysis. In overall analysis, the homozygous Cys/Cys genotype showed a significant association with lung cancer compared to Ser allele carrier status (odds ratio (OR)¼1.31, 95% confidence interval (CI)¼1.02-1.69). By histology-based analysis, the Cys/Cys genotype showed a significantly positive association with small-cell carcinoma (OR¼2.40, 95% CI¼1.32-4.49) and marginally significant association with adenocarcinoma (OR¼1.32, 95% CI¼0.98-1.77). A meta-analysis of previous and our present study revealed that this polymorphism is positively associated with adenocarcinoma, although suggestive associations were also found for squamousand small-cell lung cancers. These results indicate that rs1052133 contributes to the risk of adenocarcinoma of lung.

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Section: Discussionmentioning

confidence: 52%

Section: Meta-analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

et al. 2009

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“…(Hu et al, 2005). A Russian study of more than 2000 cases reported that R194W was associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking (Hung et al, 2005). These results are somewhat surprising since a common perception is that a change in amino-acid structure would be deleterious to function and result in an increased risk of cancer.…”

Section: Xrcc1 Polymorphisms and Cancer Association Studiesmentioning

confidence: 99%

Mouse models of XRCC1 DNA repair polymorphisms and cancer

Ladiges

2006

Oncogene

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DNA damage plays a major role in mutagenesis, carcinogenesis and aging. A gene that is emerging as an essential element in the repair of both damaged bases and single-strand breaks (SSB) is XRCC1. XRCC1 has been shown to have a large number of single-nucleotide polymorphisms (SNPs), several of which are being increasingly studied in cancer epidemiology investigations, in part because of their relative high frequency in the population. Although association trends with specific cancer types have occasionally been shown in a variety of ethnic backgrounds, there are often conflicting reports that weaken any substantial conclusions. The functional significance of these SNPs is still largely unknown. XRCC1 is an excellent prototype to provide a forum for determining how epidemiological cancer association studies with DNA repair gene polymorphisms can be validated or refuted. The focus is on the utilization of in silico data and biochemical studies in cell lines and existing mouse models to help provide a framework for the development of new mutant mouse lines that mimic human polymorphisms. These mouse lines will provide the next generation of mammalian tools for carcinogen exposure studies relevant to human cancer and variations in XRCC1, and provide the basis for investigating groups of genes and polymorphisms in an animal model.

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Lung Cancer: Genetics

Watza

Coté

Schwartz

2017

Encyclopedia of Life Sciences

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There exists sufficient evidence supporting a genetic component to lung cancer development. However, the genes involved and the exact mechanisms underlying individual susceptibility to lung cancer development are still unclear. In addition, lung tumours demonstrate a multitude of genetic alterations, of which several are known to drive lung malignancy growth and invasion. These driver alterations are currently being exploited in the development of targeted treatments, improving lung cancer therapy. Similarly, the study of the genetics of lung cancer is an ongoing field of investigation, and technological advancements are providing a better understanding of the genetic nature of the disease. Advancements are expected to improve both our understanding of lung cancer and the management of the disease in the clinical setting. Key Concepts Lung cancer is the number one cause of cancer‐related mortality. Tobacco smoke exposure is linked to 85–90% of all lung cancers, although only 15% of all smokers will develop lung cancer in their life. A family history of lung cancer is a strong indicator of an individual's risk of developing lung cancer, suggesting that genetics plays a role in susceptibility. Family‐based linkage analyses have established a region on chromosome 6q23‐25 as containing a major lung cancer susceptibility locus in familial lung cancer. Variation in the carcinogen metabolism and DNA repair pathways have been implicated as modulators of an individual's susceptibility to lung cancer, given a sufficient carcinogen exposure. Genome‐wide association studies have discovered multiple loci associated with the risk of lung cancer in several distinct populations. Genome and exome sequencing are useful tools to understand malignancy‐driven genetic variation within lung tumours. Commonly occurring somatic mutations are the focus of ongoing clinical investigation to improve lung cancer therapies.

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Large-Scale Investigation of Base Excision Repair Genetic Polymorphisms and Lung Cancer Risk in a Multicenter Study

Abstract: Our results do not support a major independent role of BER gene polymorphisms in lung cancer risk. However, we cannot exclude the possibility that the OGG1 Ser326Cys and XRCC1 Arg194Trp polymorphisms play minor roles in lung carcinogenesis.

Cited by 162 publications

References 41 publications

hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

Mouse models of XRCC1 DNA repair polymorphisms and cancer

Lung Cancer: Genetics

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