Coding variants in human double-strand break DNA repair genes

Ruttan, Cindy C.; Glickman, Barry W.

doi:10.1016/s0027-5107(02)00218-x

Cited by 29 publications

(15 citation statements)

References 85 publications

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“…Therefore, the CochraneArmitage test was used to compare genotype frequencies for XRCC3. For all four DSB repair genes, 95% CIs for allele frequencies included allele frequencies from previous studies for White controls (28,29,(39)(40)(41)(42)(43)(44)(45) and the National Cancer Institute SNP500 database (http://snp500cancer.nci.nih.gov) for African American and White controls.…”

Section: Resultsmentioning

confidence: 99%

Polymorphisms in DNA Repair Genes, Medical Exposure to Ionizing Radiation, and Breast Cancer Risk

Millikan¹,

Player²,

DeCotret³

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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An epidemiologic study was conducted to determine whether polymorphisms in DNA repair genes modify the association between breast cancer risk and exposure to ionizing radiation. Self-reported exposure to ionizing radiation from medical sources was evaluated as part of a population-based, case-control study of breast cancer in African-American (894 cases and 788 controls) and White (1,417 cases and 1,234 controls) women. Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the doublestrand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray crosscomplementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/ His. Allele and genotype frequencies were not significantly different in cases compared with controls for all four genetic polymorphisms, and odds ratios for breast cancer were close to the null. Combining women with two, three, and four variant genotypes, a positive association was observed between breast cancer and number of lifetime mammograms (P trend < 0.0001). No association was observed among women with zero or one variant genotype (P = 0.86). Odds ratios for radiation treatments to the chest and number of lifetime chest X-rays were slightly elevated but not statistically significant among women with two to four variant genotypes. The study has several limitations, including inability to distinguish between diagnostic and screening mammograms or reliably classify prediagnostic mammograms and chest X-rays in cases. Prospective studies are needed to address whether common polymorphisms in DNA repair genes modify the effects of low-dose radiation exposure from medical sources. (Cancer Epidemiol Biomarkers Prev 2005;14(10):2326 -34)

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Section: Resultsmentioning

confidence: 99%

Polymorphisms in DNA Repair Genes, Medical Exposure to Ionizing Radiation, and Breast Cancer Risk

Millikan¹,

Player²,

DeCotret³

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Dozens of genes are involved in DNA strand break repair to maintain genomic stability through different pathways mediated by cell cycle control genes (8,9). Each DNA repair gene plays a unique role.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of DNA Repair Genes and Risk of Glioma

Wang¹,

Bondy²,

Shen³

et al. 2004

Cancer Research

149

105

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DNA repair genes play a major role in maintaining genomic stability through different repair pathways that are mediated by cell cycle control genes such as p53. We found previously that glioma patients were susceptible to ␥-ray-induced chromosomal breaks, which may be influenced by genetic variation in genes involved in DNA strand breaks, such as XRCC1 in single-strand break repair, XRCC3 and RAD51 in homologous recombination repair, and XRCC7 in nonhomologous end joining double-strand break repair. Therefore, we tested the hypothesis that genetic polymorphisms in XRCC1, XRCC3, RAD51, XRCC7, and p53 were associated with risk of glioma in 309 patients with newly diagnosed glioma and 342 cancer-free control participants frequency matched on age (؎5 years), sex, and self-reported ethnicity. We did not find any statistically significant differences in the distributions of XRCC1 Arg399Gln, XRCC3 Thr241Met, RAD51 G135C, and P53 Arg72Pro polymorphisms between the cases and the controls. However, the XRCC7 G6721T variant T allele and TT genotype were more common in the cases (0.668 and 43.4%, respectively) than in the controls (0.613 and 38.9%, respectively), and the differences were statistically significant (P ‫؍‬ 0.045 and 0.040, respectively). The adjusted odds ratios were 1.78 (95% confidence interval, 1.08 -2.94) and 1.86 (95% confidence interval, 1.12-3.09) for the GT heterozygotes and TT homozygotes, respectively. The combined T variant genotype (GT؉TT) was associated with a 1.82-fold increased risk of glioma (95% confidence interval, 1.13-2.93). These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.

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“…This variation in DNA repair capacity has characteristics expected of cancer susceptibility genes. The proteins encoded by those alleles might exhibit reduced function rather than absence of function, which causes disease (11,12). Several polymorphisms in genes that encode for DNA repair proteins have been described, and most of these are participants in the four major DNA repair pathways: base excision repair, nucleotide excision repair (NER), mismatch repair, and double-strand break/recombination repair.…”

Section: Introductionmentioning

confidence: 99%

Association of Polymorphisms in ERCC2 Gene with Non-Familial Thyroid Cancer Risk

Silva¹,

Gil

Oliveira³

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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The ERCC2 protein is an evolutionary conserved ATPdependent helicase that is associated with a TFIIH transcription factor complex and plays an important role in nucleotide excision repair. Mutations in this gene are responsible for xeroderma pigmentosum and also for Cocayne syndrome and trichothiodystrophy. Several single nucleotide polymorphisms have been identified in the ERCC2 locus. Among them, a G23591A polymorphism in the codon 312 results in an Asp ! Asn substitution in a conserved region and a A35931C polymorphism in the codon 751 results in a Lys ! Gln substitution. Because these polymorphisms have been associated with an increased risk for several types of cancers, we carried out an hospital based case-control study in a Caucasian Portuguese population to evaluate the potential role of these polymorphisms on the individual susceptibility to thyroid cancer. The results obtained did not reveal a significant association between each individual polymorphism studied (G23591A and A35931C) and an increased thyroid cancer risk, but individuals homozygous for non-wild-type variants are overrepresented in patients group. The evaluation of the different haplotypes generated by these polymorphisms showed that individuals simultaneously homozygous for rare variants of both polymorphisms have an increased risk for thyroid cancer [adjusted odds ratio (OR) 3.084; 95% confidence interval (95% CI), 1.347-7.061; P = 0.008] and for papillary thyroid -type tumors (adjusted OR, 2.997; 95% CI, 1.235-7.272; P = 0.015) but not for follicular thyroid -type tumors. These results suggest that genetic polymorphisms in this gene might be associated with individual susceptibility towards thyroid cancer, mainly papillary-type tumors, but larger studies are required to confirm these results. (Cancer Epidemiol Biomarkers Prev 2005;14(10):2407 -12)

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Coding variants in human double-strand break DNA repair genes

Cited by 29 publications

References 85 publications

Polymorphisms in DNA Repair Genes, Medical Exposure to Ionizing Radiation, and Breast Cancer Risk

Polymorphisms in DNA Repair Genes, Medical Exposure to Ionizing Radiation, and Breast Cancer Risk

Polymorphisms of DNA Repair Genes and Risk of Glioma

Association of Polymorphisms in ERCC2 Gene with Non-Familial Thyroid Cancer Risk

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