The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8-oxoguanine DNA glycosylase 1, poly (ADP-ribose) polymerase (PARP) 1, PARP4 and X-ray repair cross-complementing 1 (XRCC1)] in a case-control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN-MPNs when considered as a whole. However, stratification for essential thrombocythaemia revealed i) borderline effect/tendency to increased risk when carrying at least one variant allele for XRCC1_399 single-nucleotide polymorphism (SNP); ii) decreased risk for Janus kinase 2-positive patients carrying at least one variant allele for XRCC1_399 SNP; and iii) decreased risk in females carrying at least one variant allele for MUTYH SNP. Combination of alleles demonstrated an increased risk to PN-MPNs for one specific haplogroup. These findings may provide evidence for gene variants in susceptibility to MPNs. Indeed, common variants in DNA repair genes may hamper the capacity to repair DNA, thus increasing cancer susceptibility.

/pdf/dna-repair-genes-polymorphisms-and-genetic-susceptibility-to-c0qih0eeil.pdf

DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms

AIM The goals of this study included an analysis of the incidence of single nucleotide polymorphisms (SNPs) genotypes and alleles in DNA repair genes and evaluation of the effects by which this genetic variability may influence the risk for endometrial cancer. MATERIALS AND METHODS The study group included 610 women with endometrial cancer and was compared with a quantitatively matched control group of 610 women without any diagnosed malignancy. The following polymorphisms were analyzed: X-Ray repair cross complementing 1 (XRCC1)-Arg399Gln (rs25487); XRCC2-Arg188His (rs3218536); XRCC3-Thr241Met (rs861539); ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2)-Lys751Gln (rs13181); and 8-oxoguanine DNA glycosylase (OGG1)-Ser326Cys (rs13181). RESULTS Allele XRCC2-188His [odds ratio (OR)=5.24, 95% confidence interval (CI)=4.36-6.29; p<0.0001], hOGG1-326Cys (OR=1.60, 95% CI=1.36-1.88; p<0.0001) and ERCC2-751Gln (OR=1.67, 95% CI=1.42-1.96; p<0.0001) strongly correlated with neoplastic disease. CONCLUSION The evaluated SNPs may be approached as a group of new risk factors for the development of this cancer type.

Studies of Correlations Between Single Nucleotide Polymorphisms of DNA Repair Genes and Endometrial Cancer in Polish Women.

Introduction:Many germline associations have been reported for urinary bladder cancer (UBC) outcomes and prognostic characteristics. It is unclear whether there are overlapping genetic patterns for...

/pdf/systematic-review-genetic-associations-for-prognostic-2ih64a4axe.pdf

Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer

Background Single nucleotide polymorphisms in 8-oxoguanine DNA glycosylase-1 (OGG1) gene modulates DNA repair capacity and functions as one of the first lines of protective mechanisms against 8-hydroxy-2'-deoxyguanosine (8-OHdG) mutagenicity. OGG1-Cys326 gene polymorphism may decrease DNA repair function, causing oxidative stress due to higher oxidative DNA damage. The main purpose of this study was to examine the link of oxidative and genotoxic DNA damage with DNA repair OGG1 gene polymorphism, in charcoal workers exposed to polyaromatic hydrocarbons. Methods Urinary 8-OHdG excretion (a biomarker of oxidative DNA damage) was determined in both exposed and control populations. Genotyping of OGG1 DNA repair gene in the blood samples of subjects was carried out by PCR-RFLP method. Results The 8-OHdG urinary concentration was significantly higher (p < 0.05) in the exposed (geometric mean 12.33 ± 3.78) than in the unexposed (geometric mean 7.36 ± 2.29) population. DNA damage, as measured by 8-OHdG and tail moment content, was found to be significantly higher in OGG1 homozygous mutants (mt/mt; 18.81 ± 3.34; 6.04 ± 0.52) as compared to wild-type genotypes (wt/wt; 10.34 ± 2.25; 5.19 ± 2.50) and heterozygous (wt/mt) mutants (12.82 ± 2.81; 6.04 ± 0.93) in the exposed group. Conclusion We found a significant association of OGG1 heterozygous (wt/mt) and homozygous (mt/mt) variants with oxidative and genotoxic damage, suggesting that these polymorphisms may modulate the effects of polycyclic aromatic hydrocarbons exposure in occupational workers.

/pdf/ogg1-dna-repair-gene-polymorphism-as-a-biomarker-of-1j5f02m8rw.pdf

OGG1 DNA Repair Gene Polymorphism As a Biomarker of Oxidative and Genotoxic DNA Damage.

Background: Recently, there have been several studies that have looked at the association between hOGG1 Ser326Cys polymorphism and esophageal cancer (EC) risk. However, the results of previous reports remain controversial and ambiguous. Thus, we performed a meta-analysis to explore more precisely the association between hOGG1 Ser326Cys polymorphism and the risk of EC. Methods: A meta-analysis was performed to examine the association between hOGG1 Ser326Cys polymorphism and EC risk. Odds ratio (OR) and its 95% confidence interval (CI) were used for statistical analysis. Results: Our publication search identified a total of 9 studies with 1,875 cases and 3,041 controls. There was no significant associations in all genetic models between hOGG1 Ser326Cys polymorphism and EC observed (OR =1.024, 95% CI: 0.932–1.125 for Cys vs . Ser, P=0.624; OR =1.126, 95% CI: 0.901–1.408 for Cys/Cys vs . Ser/Ser, P=0.296; OR = 0.961, 95% CI: 0.844–1.093 for Ser/Cys vs . Ser/Ser, P =0.540; OR =0.989, 95% CI: 0.874–1.118 for Cys/Cys + Ser/Cys vs . Ser/Ser, P=0.855; OR =1.165, 95% CI: 0.945–1.436 for Cys/Cys vs . Ser/Cys + Ser/Ser, P=0.153). Also, in the stratified analyses by ethnicity and cancer type, no significant association was observed. Conclusions: This meta-analysis on hOGG1 Ser326Cys polymorphism and the risk of EC suggests there is no statistically significant association between the two. Additional primary studies may be necessary to provide evidence of any significant association between this specific polymorphism and EC.

/pdf/the-hogg1-ser326cys-polymorphism-and-esophageal-cancer-risk-2n51trzorn.pdf

The hOGG1 Ser326Cys polymorphism and esophageal cancer risk: a meta-analysis of 1,875 cancer cases and 3,041 controls

Objective: To assess the susceptibility of the hOGG1 genetic polymorphism for bladder cancer and evaluate the impact of smoking exposure. Materials and Methods: Articles included in PubMed, Medline and Springer databases were retrieved using the following key words: “human 8-oxoguanine DNA glycosylase”, “OGG”, “OGG1”, “hOGG1”, “genetic variation”, “polymorphism” , “bladder cancer”, and “bladder carcinoma” to Meta-analysis was performed to detect whether there were differences between the bladder cancer group and the control group about the distribution of genotypes of the hOGG1 gene. Results: The results showed that there are no significant associations between the hOGG1 326Cys polymorphism and bladder cancer: GG vs. CC (OR: 1.09, 95% CI: 0.85–1.40, p=0.480); GC vs. CC (OR: 1.05, 95% CI: 0.85–1.28, p=0.662); GG+GC vs. CC (OR: 1.04, 95% CI: 0.89–1.21, p=0.619); GG vs. GC+CC(OR: 1.02, 95% CI: 0.78–1.33, p=0.888); G vs. C (OR: 1.01, 95% CI: 0.91–1.13, p=0.818). In the smoker population, no significant associations between the hOGG1 326Cys polymorphism and bladder cancer were observed for all the models. However, individuals carrying the hOGG1 Cys326Cys genotype have increased risk for bladder cancer compared to those carrying the hOGG1 Ser326Ser genotype in the non-smoker Asian population. Conclusion: The hOGG1 326Cys polymorphisms aren't a risk factor for bladder cancer, especially in the smoker population. But GG genotype is a risk factor for bladder cancer to the non-smoker Asian population compared with CC genotype.

/pdf/the-hogg1-ser326cys-gene-polymorphism-and-susceptibility-for-2zka4o049u.pdf

The hOGG1 Ser326Cys gene polymorphism and susceptibility for bladder cancer: a meta-analysis

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The hOGG1 Ser326Cys gene polymorphism and susceptibility for bladder cancer: a meta-analysis