Familial clustering of breast cancer: Possible interaction between dna repair proficiency and radiation exposure in the development of breast cancer

Helzlsouer, Kathy J.; Harris, Emily; Parshad, R.; Fogel, Sandy; Bigbee, William L.; Sanford, Katherine K.

doi:10.1002/ijc.2910640105

Cited by 46 publications

(23 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Functioning DNA repair systems play a central role in reducing the risk of all cancers (Berwick and Vineis, 2000), including breast cancer. Women with breast cancer have been reported to have significantly reduced DNA repair proficiencies (Helzlsouer et al, 1995). The accumulation of DNA damage may contribute to the initiation of aberrant cell growth and carcinogenesis development (Helzlsouer et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in the DNA Repair GeneERCC2/XPDand Breast Cancer Risk: A HapMap-Based Case–Control Study Among Han Women in a Chinese Less-Developed Area

WANGTao

WangHaitao

GuoHongyun

et al. 2014

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Aims: Genetic variations in DNA repair genes may impact repair functions, DNA damage, and breast cancer risk. This study is aimed to assess the associations of genetic polymorphisms in excision repair cross-complementing group 2 (ERCC2) with the risk of developing breast cancer. Materials and Methods: In total, 101 histopathologically confirmed breast cancer cases and 101 age/region-matched healthy controls were genotyped for rs3916840, rs1799793, and rs238416 in ERCC2 by polymerase chain reaction-restriction fragment length polymorphism. Results: The rs238416 heterozygous GA genotype combined with the rs238416 genotypes (GA + AA) showed a significant association with breast cancer susceptibility (corrected p < 0.01, odds ratio [OR] = 0.29, 95% confidence interval [CI] = 0.15-0.54; corrected p < 0.01, OR = 0.31, 95% CI = 0.17-0.56, respectively). The rs238416 GA genotype carriers had a decreased risk of breast cancer. However, we observed no significant association between the rs3916840 and rs1799793 polymorphisms in ERCC2 and breast cancer risk. Moreover, haplotype analysis showed that the ACG haplotype was associated with a significantly decreased risk of breast cancer, whereas the GCG haplotype was associated with a significantly increased risk of breast cancer (corrected p = 0.004 and p = 0.002, respectively). Multifactor dimensionality reduction analysis demonstrated that the interactions between rs3916840 and rs238416 were significantly synergistic. Conclusion: To the best of our knowledge, this study is the first to demonstrate that the rs238416 heterozygous genotype likely has a higher DNA repair capacity and, thus, can be protective against breast cancer in Chinese Han women.

show abstract

Section: Introductionmentioning

confidence: 99%

Polymorphisms in the DNA Repair GeneERCC2/XPDand Breast Cancer Risk: A HapMap-Based Case–Control Study Among Han Women in a Chinese Less-Developed Area

WANGTao

WangHaitao

GuoHongyun

et al. 2014

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

“…Deficient DNA repair capacity has been suggested as a predisposing factor in familial and sporadic breast cancer [2][3][4][5]. Reduced DNA repair capacity among breast cancer cases has been observed in mutagen (X-rays, bleomycin, and BPDE [benzopyrene dihydrodiol epoxide]) sensitivity assays conducted in human peripheral blood lymphocytes [5][6][7][8][9] and in host cell reactivation assays with BPDE-or UV-induced damage [10,11].…”

Section: Introductionmentioning

confidence: 99%

Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk

Han

Haiman

Niu

et al. 2008

Breast Cancer Res Treat

View full text Add to dashboard Cite

Purpose-We comprehensively evaluated genetic variants in DNA repair genes with premenopausal breast cancer risk.Methods-In this nested case-control study of 239 prospectively ascertained premenopausal breast cancer cases and 477 matched controls within the Nurses' Health Study II, we evaluated 1,463 genetic variants in 60 candidate genes across 5 DNA repair pathways, along with DNA polymerases, Fanconi Anemia complementation groups, and other related genes.Results-Four variants were associated with breast cancer risk with a significance level of <0.01; two in the XPF gene and two in the XRCC3 gene. An increased risk was found in those harboring a greater number of missense putative risk alleles (a priori defined in an independent study) in the non-homologous end-joining repair pathway of double-strand breaks (odds ratio per risk allele, 1.37 (95%confidence interval, 1.03-1.82), P trend, 0.03).Conclusions-This study implicates variants of genes in the double-strand break repair pathway in the etiology of premenopausal breast cancer.

show abstract

“…Because reduced DNA repair capacity may lead to genetic instability and carcinogenesis, genes involved in DNA repair have been proposed as candidate cancer susceptibility genes (1,2). Suboptimal DNA repair has been associated with up to a 5-fold increased risk of breast cancer (3,4).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in Nucleotide Excision Repair Genes, Polycyclic Aromatic Hydrocarbon-DNA Adducts, and Breast Cancer Risk

Crew

Gammon

Terry

et al. 2007

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

Genes involved in the nucleotide excision repair (NER) pathway, which removes bulky DNA adducts, are potential low-penetrance cancer susceptibility genes. We recently reported an association between detectable polycyclic aromatic hydrocarbon (PAH)-DNA adducts and breast cancer risk. Using a population-based breast cancer case-control study on Long Island, New York, we examined whether polymorphisms in NER genes modified the association between PAH-DNA adducts and breast cancer risk. We examined polymorphisms in ERCC1 (3 ¶-untranslated region 8092C/A), XPA (5 ¶-untranslated region À4G/A), XPD (Asp 312 Asn in exon 10), XPF (Arg 415 Gln in exon 8), and XPG (Asp 1104 His in exon 15) in 1,053 breast cancer cases and 1,102 population-based controls. The presence of at least one variant allele in XPD was associated with a 25% increase in the odds ratio [OR, 1.25; 95% confidence interval (95% CI), 1.04-1.50] for breast cancer. The increase associated with homozygosity of the variant alleles for XPD and ERCC1 was stronger among those with detectable PAH-DNA adduct levels (OR, 1.83; 95% CI, 1.22-2.76 and OR, 1.92; 95% CI, 1.14-3.25 for detectable versus nondetectable adducts and homozygous wild-type genotype for XPD and ERCC1, respectively). We found no association between XPA, XPF, and XPG genotypes, PAH-DNA adducts, and breast cancer risk. When we combined genotypes for these NER pathway genes, there was a significant trend for increasing breast cancer risk with increasing number of putative high-risk alleles. Overall, this study suggests that the risk of breast cancer may be elevated among women with polymorphisms in NER pathway genes and detectable PAH-DNA adducts. (Cancer Epidemiol Biomarkers Prev 2007;16(10):2033 -41)

show abstract

Familial clustering of breast cancer: Possible interaction between dna repair proficiency and radiation exposure in the development of breast cancer

Cited by 46 publications

References 20 publications

Polymorphisms in the DNA Repair GeneERCC2/XPDand Breast Cancer Risk: A HapMap-Based Case–Control Study Among Han Women in a Chinese Less-Developed Area

Polymorphisms in the DNA Repair GeneERCC2/XPDand Breast Cancer Risk: A HapMap-Based Case–Control Study Among Han Women in a Chinese Less-Developed Area

Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk

Polymorphisms in Nucleotide Excision Repair Genes, Polycyclic Aromatic Hydrocarbon-DNA Adducts, and Breast Cancer Risk

Contact Info

Product

Resources

About