OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data

Ali, Kashif; Mahjabeen, Ishrat; Sabir, Maimoona; Mehmood, Humera; Kayani, Mahmood Akhtar

doi:10.1155/2015/690878

Cited by 24 publications

(17 citation statements)

References 70 publications

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“…Susceptibility to breast cancer is a multifactorial trait (genetic components or environmental factors) that may differ between populations [24]. Certain genotypes of several genetic polymorphisms in enzymes involved in the metabolism of xenobiotics (such as CYP1A1) or in DNA repair genes have been suggested to alter the risk of breast cancer [25,26]. …”

Section: Discussionmentioning

confidence: 99%

Effect of Genetic Polymorphisms and Long-Term Tobacco Exposure on the Risk of Breast Cancer

Verde

Santiago

Chicharro

et al. 2016

IJMS

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Introduction: Tobacco smoke contains many potentially harmful compounds that may act differently and at different stages in breast cancer development. The focus of this work was to assess the possible role of cigarette smoking (status, dose, duration or age at initiation) and polymorphisms in genes coding for enzymes involved in tobacco carcinogen metabolism (CYP1A1, CYP2A6) or in DNA repair (XRCC1, APEX1, XRCC3 and XPD) in breast cancer development. Methods: We designed a case control study with 297 patients, 217 histologically verified breast cancers (141 smokers and 76 non-smokers) and 80 healthy smokers in a cohort of Spanish women. Results: We found an association between smoking status and early age at diagnosis of breast cancer. Among smokers, invasive carcinoma subtype incidence increased with intensity and duration of smoking (all Ptrend < 0.05). When smokers were stratified by smoking duration, we only observed differences in long-term smokers, and the CYP1A1 Ile462Ile genotype was associated with increased risk of breast cancer (OR = 7.12 (1.98–25.59)). Conclusions: Our results support the main effect of CYP1A1 in estrogenic metabolism rather than in tobacco carcinogen activation in breast cancer patients and also confirmed the hypothesis that CYP1A1 Ile462Val, in association with long periods of active smoking, could be a breast cancer risk factor.

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Section: Discussionmentioning

confidence: 99%

Effect of Genetic Polymorphisms and Long-Term Tobacco Exposure on the Risk of Breast Cancer

Verde

Santiago

Chicharro

et al. 2016

IJMS

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“…Similarly, OGG1‐deficient progeny exhibited more severe, sex‐dependent embryopathies when exposed to EtOH in whole embryo culture (Miller‐Pinsler & Wells, ), compared to EtOH‐exposed +/+ littermates, which were also protected by PBN pretreatment, providing the most direct evidence to date that oxidatively damaged DNA, as distinct from altered ROS‐mediated signal transduction, may play a pathogenic role in FASD. Although the role of OGG1 in neurodevelopmental abnormalities in humans is currently not known, various OGG1 polymorphisms (Figure ), in particular Ser326Cys, have been associated with an increase in risk for a variety of cancers (Ali, Mahjabeen, Sabir, Mehmood, & Kayani, ; Peng et al, ; Zhou, Li, Ji, Wang, & Gao, ), with respective reductions in OGG1 activity of 14% in heterozygous (Ser/Cys) and 20% in homozygous (Cys/Cys) subjects (Simonelli et al, ; Weiss, Goode, Ladiges, & Ulrich, ), and a further decrease in activity in vitro under oxidizing conditions (Kershaw & Hodges, ; Lee, Hodges, & Chipman, ; Simonelli et al, ). This suggests that individuals with the Cys/Cys polymorphism may be more susceptible to oxidative stress‐induced pathologies.…”

Section: Dna Repairmentioning

confidence: 99%

Oxidative stress and DNA damage in the mechanism of fetal alcohol spectrum disorders

Bhatia

Drake

Miller

et al. 2019

Birth Defects Research

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This review covers molecular mechanisms involving oxidative stress and DNA damage that may contribute to morphological and functional developmental disorders in animal models resulting from exposure to alcohol (ethanol, EtOH) in utero or in embryo culture. Components covered include: (a) a brief overview of EtOH metabolism and embryopathic mechanisms other than oxidative stress; (b) mechanisms within the embryo and fetal brain by which EtOH increases the formation of reactive oxygen species (ROS); (c) critical embryonic/fetal antioxidative enzymes and substrates that detoxify ROS; (d) mechanisms by which ROS can alter development, including ROS-mediated signal transduction and oxidative DNA damage, the latter of which leads to pathogenic genetic (mutations) and epigenetic changes; (e) pathways of DNA repair that mitigate the pathogenic effects of DNA damage; (f) related indirect mechanisms by which EtOH enhances risk, for example by enhancing the degradation of some DNA repair proteins; and, (g) embryonic/fetal pathways like NRF2 that regulate the levels of many of the above components. Particular attention is paid to studies in which chemical and/or genetic manipulation of the above mechanisms has been shown to alter the ability of EtOH to adversely affect development. Alterations in the above components are also discussed in terms of: (a) individual embryonic and fetal determinants of risk and (b) potential risk biomarkers and mitigating strategies. FASD risk is likely increased in progeny which/who are biochemically predisposed via genetic and/or environmental mechanisms, including enhanced pathways for ROS formation and/or deficient pathways for ROS detoxification or DNA repair.

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“…Epidemiological studies investigated an association between the Ser326Cys polymorphism and the risk of various types of cancer. An increased risk of cancer was found in some studies, whereas other studies failed to find this association (reviewed in Ali et al 2015; Boiteux, Coste, and Castaing 2017; Goode, Ulrich, and Potter 2002; Hirano 2008; Weiss et al 2005). An increased risk for lung, digestive system, and head and neck cancers was most consistently observed.…”

Section: Introductionmentioning

confidence: 98%

“…A number of sequence variants, referred to as polymorphisms or mutations in the scientific literature, have been reported for OGG1 (reviewed in Goode, Ulrich, and Potter 2002; Weiss et al 2005; Ali et al 2015; Boiteux, Coste, and Castaing 2017). A single nucleotide polymorphism at codon 326 that results in a serine to cysteine amino acid substitution (Ser326Cys) is common in human populations with allelic frequencies of 0.22–0.45 (Goode, Ulrich, and Potter 2002).…”

Section: Introductionmentioning

confidence: 99%

Differential effects of silver nanoparticles on DNA damage and DNA repair gene expression in Ogg1-deficient and wild type mice

et al. 2017

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Due to extensive use in consumer goods, it is important to understand the genotoxicity of silver nanoparticles (AgNPs) and identify susceptible populations. 8-Oxoguanine DNA glycosylase 1 (OGG1) excises 8-oxo-7,8-dihydro-2-deoxyguanine (8-oxoG), a pro-mutagenic lesion induced by oxidative stress. To understand whether defects in OGG1 is a possible genetic factor increasing an individual’s susceptibly to AgNPs, we determined DNA damage, genome rearrangements, and expression of DNA repair genes in Ogg1-deficient and wild type mice exposed orally to 4 mg/kg of citrate-coated AgNPs over a period of 7 d. DNA damage was examined at 3 and 7 d of exposure and 7 and 14 d post-exposure. AgNPs induced 8-oxoG, double strand breaks (DSBs), chromosomal damage, and DNA deletions in both genotypes. However, 8-oxoG was induced earlier in Ogg1-deficient mice and 8-oxoG levels were higher after 7-d treatment and persisted longer after exposure termination. AgNPs downregulated DNA glycosylases Ogg1, Neil1, and Neil2 in wild type mice, but upregulated Myh, Neil1, and Neil2 glycosylases in Ogg1-deficient mice. Neil1 and Neil2 can repair 8-oxoG. Thus, AgNP-mediated downregulation of DNA glycosylases in wild type mice may contribute to genotoxicity, while upregulation thereof in Ogg1-deficient mice could serve as an adaptive response to AgNP-induced DNA damage. However, our data show that Ogg1 is indispensable for the efficient repair of AgNP-induced damage. In summary, citrate-coated AgNPs are genotoxic in both genotypes and Ogg1 deficiency exacerbates the effect. These data suggest that humans with genetic polymorphisms and mutations in OGG1 may have increased susceptibility to AgNP-mediated DNA damage.

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OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data

Cited by 24 publications

References 70 publications

Effect of Genetic Polymorphisms and Long-Term Tobacco Exposure on the Risk of Breast Cancer

Effect of Genetic Polymorphisms and Long-Term Tobacco Exposure on the Risk of Breast Cancer

Oxidative stress and DNA damage in the mechanism of fetal alcohol spectrum disorders

Differential effects of silver nanoparticles on DNA damage and DNA repair gene expression in Ogg1-deficient and wild type mice

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