Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects

Vodička, Pavel; Štětina, Rudolf; Polakova, Veronika; Tulupova, Elena; Naccarati, Alessio; Vodičková, Ľudmila; Kumar, Rajiv; Hanova, M.; Pardini, Barbara; Slyšková, Jana; Musak, Ludovit; Palma, Giuseppe De; Souček, Pavel; Hemminki, Kari

doi:10.1093/carcin/bgl187

Cited by 171 publications

(102 citation statements)

References 27 publications

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“…It is widely accepted that alterations in XRCC1 may play important roles in the process associated with the etiology of cancers because of the alteration of base excision repair functions (Monaco et al, 2007). The functional significance of XRCC1 Arg194Trp polymorphism is due to the location in an evolutionarily conserved region, and the occurrence of chromosomal breaks is largely increased among cases with the Arg/Arg genotype (Vodicka et al, 2007). The Arg280His is located in the PCNA-binding region of XRCC1, and could potentially alter the structure DOI:http://dx.doi.org/10.7314/APJCP.2012.13.12.6385 XRCC1 Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis of XRCC1 and its ability to interact with apurinic/ apyrimidinic endonuclease (Yan et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

Qian¹,

Liu²,

Xu³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Section: Discussionmentioning

confidence: 99%

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

Qian¹,

Liu²,

Xu³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…Some in vitro data reported that cell lines bearing hOGG1 polymorphism, and therefore with a lower expression of hOGG1 protein, showed an increased radiosensitivity. 27,28 On the contrary, other studies highlighted that in case of radiation damage, Genetic polymorphisms predict response in rectal cancer E Cecchin et al the base excision repair does not always protect cells from biological consequences and a decreased hOGG1 expression level favors DNA repair efficacy after g-irradiation. The first step of base excision repair is catalyzed by the oxidative DNA glycosilase as hOGG1, which removes the altered purines or pyrimidines.…”

Section: Discussionmentioning

confidence: 99%

Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy

et al. 2010

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The aim of the study was the identification of a pharmacogenetic profile predictive of the tumor regression grade (TRG), considered as tumor response parameter, after neo-adjuvant treatment in rectal cancer patients. A total of 238 rectal cancer patients treated in a neo-adjuvant setting by a fluoropyrimidines-based chemo-radiotherapy (RT) were genotyped for 25 genetic polymorphisms in 16 genes relevant for treatment-associated pathways. Two polymorphisms were associated with TRG in a multivariate analysis: hOGG1-1245C4G, which can affect radiosensitivity and MTHFR-677C4T, which is involved in fluoropyrimidines action. Patients bearing at least one variant allele had a lower chance to get TRGp2 (OR ¼ 0.46 95% CI 0.23-0.90, P ¼ 0.024; and OR ¼ 0.48 95% CI 0.24-0.96, P ¼ 0.034; respectively). An association trend was observed for ABCB1-3435C4T, which is responsible for the multi-drug resistance (odds ratio (OR) ¼ 1.96, 95% confidence interval (CI) 0.98-3.95, P ¼ 0.057). Exploratory classification and regression tree (CART) analysis highlighted high-order gene-gene and gene-environment interactions and a genetic signature associated with differential response, with hOGG1-1245C4G as the most predictive factor. Other significant variables were: ABCB1-3435C4T, MTHFR-677C4T, ERCC1-8092C4A, ABCC2-1249G4A, XRCC1-28152G4A, XRCC3-4541A4G and patients gender. On the basis of CART results, patients were categorized into three groups according to tumor response probability: intermediate and high profiles had a higher probability to get TRGp2 as compared with low profiles (OR ¼ 4.12 95% CI 1. Po0.001 and OR ¼ 12.44, Po0.0001, respectively). This study evidences a major role of hOGG1-1245C4G and MTHFR-677C4T polymorphisms in the tumor response of rectal cancer patients treated with chemo-RT in neo-adjuvant setting, and shows the relevance of gene-gene and gene-environment interactions for complex phenotypes as tumor response.

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“…Polymorphic variants of OGG1, XRCC1, and APE1 genes have been reported to be responsible for functional changes at the protein level which may be related to cancer risk (Vodicka et al, 2007;Baute and Depicker, 2008), including nasopharyngeal carcinoma (Li et al, 2013), bladder cancer (Mittal et al, 2012), lung cancer (Osawa et al, 2010), esophageal cancer (Zhai et al, 2009), and cervical cancer (Li et al, 2012). Similarly, epidemiologic studies have examined the association between these inheritable BER pathway variations and the susceptibility to breast cancer; however, the results have been inconclusive.…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

Luo¹,

Li²,

Qu³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Altered DNA repair capacity can result in increased susceptibility to cancer. The base excision repair (BER) pathway effectively removes DNA damage caused by ionizing radiation and reactive oxidative species (ROS). In the current study, we analyzed the possible relation of polymorphisms in BER genes, including 8-oxoguanine DNA glycosylase (OGG1), apurinic/apyrimidinic endonuclease 1 (APE1), and X-ray repair cross-complementing group 1 protein (XRCC1), with breast cancer risk in Chinese Han women. This case-control study examined 194 patients with breast cancer and 245 cancer-free hospitalized control subjects. Single nucleotide polymorphisms (SNPs) of OGG1 (Ser326Cys), XRCC1 (Arg399Gln), and APE1 (Asp148Glu and -141T/G) were genotyped and analyzed for their association with breast cancer risk using multivariate logistic regression models. We found that XRCC1 Arg399Gln was significantly associated with an increased risk of breast cancer. Similarly, the XRCC1 Gln allele was significantly associated with an elevated risk in postmenopausal women and women with a high BMI (≥ 24 kg/m 2 ). The OGG1 Cys allele provided a significant protective effect against developing cancer in women with a low BMI (< 24 kg/m 2 ). When analyzing the combined effects of these alleles on the risk of breast cancer, we found that individuals with ≥ 2 adverse genotypes (XRCC1 399Gln, APE1 148Asp, and OGG1 326Ser) were at a 2.18-fold increased risk of breast cancer (P = 0.027). In conclusion, our data indicate that Chinese women with the 399Gln allele of XRCC1 have an increased risk of breast cancer, and the combined effects of polymorphisms of BER genes may contribute to tumorigenesis.

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Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects

Cited by 171 publications

References 27 publications

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

X-Ray Repair Cross-Complementing Group 1(XRCC1) Genetic Polymorphisms and Thyroid Carcinoma Risk: a Meta-Analysis

Tumor response is predicted by patient genetic profile in rectal cancer patients treated with neo-adjuvant chemo-radiotherapy

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

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