Polymorphisms/Haplotypes in DNA Repair Genes and Smoking: A Bladder Cancer Case-Control Study

Matullo, Giuseppe; Guarrera, Simonetta; Sacerdote, Carlotta; Polidoro, Silvia; Davico, Laura; Gamberini, Sara; Karagas, Margaret R.; Casetta, G; Rolle, Luigi; Piazza, Alberto; Víneis, Paolo

doi:10.1158/1055-9965.epi-05-0189

Cited by 113 publications

(67 citation statements)

References 39 publications

(44 reference statements)

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“…Although polymorphisms of this gene may results in reduced DNA repair capacity, the evidence of direct functional research is limited, and the results of epidemiologic studies in terms of the associations with cancer susceptibility have proved inconsistent Savas et al, 2004;Matullo et al, 2005;Zhang et al, 2005;Ryk et al, 2006;Lee et al, 2007). Our ddata supported this hypothesis, and we found this gene polymorphism would be interact with drinking and AFB1-exposure levels in the process of AFB1-induced ovarian cancer.…”

Section: Discussionsupporting

confidence: 76%

Predictive Value of XRCC1 and XRCC3 Gene Polymorphisms for Risk of Ovarian Cancer Death After Chemotherapy

Cheng

Xue²,

Li³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Objective: To investigate any association between XRCC1 and XRCC3 polymorphisms and outcome of platinum-based chemotherapy in ovarian cancer patients. Methods: With a prospective study design was cases were consecutively collected from January 2005 to January 2007. All 310 included patients were followed-up until the end of January 2010. Genotyping of XRCC1 and XRCC3 polymorphisms was conducted by TaqMan Gene Expression assays. Results: A total of 191 patients died during follow-up. Our study showed a lower survival rate in XRCC1 399 Arg/Arg genotype than Gln/ Gln, with a significant increased risk of death (HR=1.69, 95%CI=1.07-2.78). Similarly, those carrying XRCC3 Thr/ Thr genotype had a increased risk as compare to the Met/Met genotype, with a HR (95% CI) of 1.90 (1.12-3.41). There was no significant association between XRCC1 Arg194Trp and XRCC1Arg280His gene polymorphisms and ovarian cancer death. Conclusion: Our study demonstrates that polymorphisms in DNA repair genes have roles in the susceptibility and survival of ovarian cancer patients.

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Section: Discussionsupporting

confidence: 76%

Predictive Value of XRCC1 and XRCC3 Gene Polymorphisms for Risk of Ovarian Cancer Death After Chemotherapy

Cheng

Xue²,

Li³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…This was later confirmed by two population-based studies, one conducted in the United States and the other in Poland (36). This variant allele has also been reported to confer a significantly decreased susceptibility to bladder (35), invasive ovarian (21), and upper aerodigestive (37) cancers. However, a few studies have shown no such association with cancer (37)(38)(39)(40).…”

Section: Discussionmentioning

confidence: 69%

“…For example, some studies have shown the variant allele to be associated with an increased risk for bladder, breast, and lung cancers (30,35,36,40), and these results were in agreement with the results from various functional assays showing that the variant allele was associated with an increased DNA adduct level and compromised capacity to repair X-ray-induced chromosome aberrations (42,43). In contrast, other groups found a lack of association of the T241M SNP with a risk for ovarian, skin, and endometrial cancers (20,21,39).…”

Section: Discussionmentioning

confidence: 99%

“…The probes were labeled fluorescently with either 6-FAM or VIC on the 5' end and a nonfluorescent minor groove binder quencher on the 3' end. The genotyping procedure was done exactly as described in a previous study (35). Briefly, genomic DNA was extracted from peripheral blood lymphocytes using the Human Whole Blood Genomic DNA Extraction Kit (Qiagen, Valencia, CA).…”

Section: Selection Of Dsb Polymorphisms and Genotypingmentioning

confidence: 99%

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Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions

Yang

Lippman

Huang

et al. 2008

European Journal of Cancer

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Oral premalignant lesions (OPLs) are early genetic events en route to oral cancer. To identify individuals susceptible to OPL is critical to the prevention of oral cancer. In a case-control study consisting of 147 patients with histologically confirmed OPL and 147 matched controls, we evaluated the associations of 10 genetic variants in nine genes of the double-strand break (DSB) DNA repair pathway with OPL risk. The most notable finding was an intronic polymorphism (A17893G) of the XRCC3 gene. Compared with the homozygous wild-type AA genotype, the odds ratios [OR] (95% confidence interval [CI]) for the heterozygous AG and homozygous variant GG genotype were 0.85 (0.49-1.48) and 0.18 (0.07-0.47), respectively (P for trend=0.002). In addition, compared with the most common A-C haplotype of XRCC3 (in the order of A17893G-T241M), the G-C haplotype was associated with a significantly decreased risk of OPL (OR=0.40, 95% CI 0.23-0.68). Moreover, compared with individuals without the G-C haplotype, the ORs were 1.04 (0.56-1.95) and 0.20 (0.08-0.51) for subjects with one copy and two copies of the G-C haplotype, respectively (P for trend=0.005). Classification and regression tree (CART) analysis further revealed potential highorder gene-gene and gene-environmental interactions and categorized subjects into different risk groups according to their specific polymorphic signatures. Overall, our study provides the first epidemiological evidence supporting a connection between DSB gene variants and OPL development. Our data also suggest that the effects of high-order interactions should be taken into consideration when evaluating OPL predisposition.

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“…14 The currently available high density of markers in specific chromosomal regions enables us to investigate possible involvement of a number of genes in the development of complex diseases using linkage disequilibrium (LD) to associate markers with disease occurrence at the population level. To our knowledge, few molecular epidemiologic studies have been published on cancer susceptibility associated with XRCC3 haplotypes, [15][16][17][18][19][20][21][22] whose allelic combination may serve as better makers for unknown functional variants than any single nucleotide polymorphism (SNP). Still, to date, and none of studies on XRCC3 haplotypes examined glioma risk.…”

mentioning

confidence: 99%

XRCC3 haplotypes and risk of gliomas in a Chinese population: A hospital‐based case‐control study

Zhou

Liu

Zhang

et al. 2009

Intl Journal of Cancer

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In mammalian cells, X-ray repair cross-complementing group3 (XRCC3) plays an important role in the DNA double-strand breaks (DSBs) repair by homologous recombination. Genetic polymorphisms in the XRCC3 gene may potentially affect the repair of DSBs and thus confer susceptibility to gliomas. In this study, we used a haplotype-based approach to investigate whether 4 tagging single nucleotide polymorphisms of the XRCC3 gene are associated with risk of gliomas in 771 glioma patients and 752 cancerfree controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by the unconditional logistic regression, and haplotype associations were estimated using Haplo.Stat. After adjustment for age and sex, the variant G allele of rs861530 and T allele of rs3212092 were significantly associated with an increased risk of gliomas (AG/GG versus AA: adjusted OR 5 1.44, 95% CI 5 1.15-1.80, p 5 0.001 and CT/TT versus CC: adjusted OR 5 1.66, 95% CI 5 1.12-2.46, p 5 0.013, respectively). Consistent with these results, XRCC3 haplotype ''GGCC'' containing rs861530 G allele and haplotype ''AGTC'' containing rs3212092 T allele were also significantly associated with an elevated risk of gliomas compared with the common haplotype ''AGCC'' (adjusted OR 5 1.35, 95% CI 5 1.14-1.58, p 5 0.000 and adjusted OR 5 1.67, 95% CI 5 1.11-2.52, p 5 0.015, respectively). Our results suggest that common genetic variants in the XRCC3 gene may modulate glioma risk. ' 2009 UICC

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Polymorphisms/Haplotypes in DNA Repair Genes and Smoking: A Bladder Cancer Case-Control Study

Abstract: Bladder cancer is associated with tobacco smoking and occupational exposure.

Cited by 113 publications

References 39 publications

Predictive Value of XRCC1 and XRCC3 Gene Polymorphisms for Risk of Ovarian Cancer Death After Chemotherapy

Predictive Value of XRCC1 and XRCC3 Gene Polymorphisms for Risk of Ovarian Cancer Death After Chemotherapy

Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions

XRCC3 haplotypes and risk of gliomas in a Chinese population: A hospital‐based case‐control study

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