DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns

Relton, Caroline; Daniel, C. Paul; Hammal, Donna; Parker, Louise; Tawn, E. Janet; Burn, John

doi:10.1016/j.mrfmmm.2003.09.007

Cited by 22 publications

(14 citation statements)

References 37 publications

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“…Numerous studies have assessed function of the XRCC3 T241M variant. These reports include no detrimental affect on homozygous recombination (29,30), no association with glycophorin-A somatic mutation frequency (31), no increased levels of chromosomal aberrations and single-strand breaks (32), a suggestion of slightly increased resistance to Camptothecin (29), and a capability of rescuing the endoreduplication phenotype in XRCC3 À/À cells (33). It is likely that these rather insubstantial differences in function have at most minimal effects on cancer risk.…”

Section: Discussionmentioning

confidence: 99%

Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer

Webb¹,

Hopper

Newman

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Deficiencies in DNA repair have been hypothesized to increase cancer risk and excess cancer incidence is a feature of inherited diseases caused by defects in DNA damage recognition and repair. We investigated, using a case-control design, whether the double-strand break repair gene polymorphisms RAD51 5V untranslated region À À135 G > C, XRCC2 R188H G > A, and XRCC3 T241M C > T were associated with risk of breast or ovarian cancer in Australian women. Sample sets included 1,456 breast cancer cases and 793 age-matched controls ages under 60 years of age, 549 incident ovarian cancer cases, and 335 controls of similar age distribution. For the total sample and the subsample of Caucasian women, there were no significant differences in genotype distribution between breast cancer cases and controls or between ovarian cancer cases and combined control groups. The crude odds ratios (OR) and 95% confidence intervals (95% CI) associated with the RAD51 GC/CC genotype frequency was OR, 1.10; 95% CI, 0.80-1.41 for breast cancer and OR, 1.22; 95% CI, 0.92-1.62 for ovarian cancer. Similarly, there were no increased risks associated with the XRCC2 GA/AA genotype (OR, 0.98; 95% CI, 0.76-1.26 for breast cancer and OR, 0.93; 95% CI, 0.69-1.25 for ovarian cancer) or the XRCC3 CT/TT genotype (OR, 0.92; 95% CI, 0.77-1.10 for breast cancer and OR, 0.87; 95% CI, 0.71-1.08 for ovarian cancer). Results were little changed after adjustment for age and other measured risk factors. Although there was little statistical power to detect modest increases in risk for the homozygote variant genotypes, particularly for the rare RAD51 and XRCC2 variants, the data suggest that none of these variants play a major role in the etiology of breast or ovarian cancer.

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Section: Discussionmentioning

confidence: 99%

Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer

Webb¹,

Hopper

Newman

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Four polymorphic markers were investigated by genotyping using the polymerase chain reaction (PCR) – restriction fragment length polymorph-ism (RFLP) method. In the Table 1 were show the primers pairs used, annealing temperature, fragment size and restriction enzyme of the genes studied [28-31]. All digestion were conducted with a total volume of 15 μL for 18 h at 37°C and subsequently analyzed on a 3% agarose gel with ethidium bromide staining.…”

Section: Methodsmentioning

confidence: 99%

Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes

et al. 2013

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BackgroundWe investigated a potential link between genetic polymorphisms in genes XRCC1 (Arg399Gln), OGG1 (Ser326Cys), XRCC3 (Thr241Met), and XRCC4 (Ile401Thr) with the level of DNA damage and repair, accessed by comet and micronucleus test, in 51 COPD patients and 51 controls.MethodsPeripheral blood was used to perform the alkaline and neutral comet assay; and genetic polymorphisms by PCR/RFLP. To assess the susceptibility to exogenous DNA damage, the cells were treated with methyl methanesulphonate for 1-h or 3-h. After 3-h treatment the % residual damage was calculated assuming the value of 1-h treatment as 100%. The cytogenetic damage was evaluated by buccal micronucleus cytome assay (BMCyt).ResultsCOPD patients with the risk allele XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) showed higher DNA damage by comet assay. The residual damage was higher for COPD with risk allele in the four genes. In COPD patients was showed negative correlation between BMCyt (binucleated, nuclear bud, condensed chromatin and karyorrhexic cells) with pulmonary function and some variant genotypes.ConclusionOur results suggest a possible association between variant genotypes in XRCC1 (Arg399Gln), OGG1 (Ser326Cys), XRCC3 (Thr241Met), and XRCC4 (Ile401Thr), DNA damage and progression of COPD.

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“…The XRCC4*Ile 401Thr polymorphism was genotyped using the primers and the PCR conditions indicated by Relton et al [32]. An aliquot of the PCR product was digested with BstNI, and the genotypes were resolved using a 3% agarose gel stained with ethidium bromide.…”

Section: Xrcc4ile 401thr Polymorphismmentioning

confidence: 99%

Genotoxic biomonitoring of tobacco farmers: Biomarkers of exposure, of early biological effects and of susceptibility

Silva

Allgayer

et al. 2012

Journal of Hazardous Materials

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DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns

Cited by 22 publications

References 37 publications

Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer

Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer

Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes

Genotoxic biomonitoring of tobacco farmers: Biomarkers of exposure, of early biological effects and of susceptibility

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