DNA Repair Gene XPD Polymorphisms and Cancer Risk: A Meta-analysis Based on 56 Case-Control Studies

Wang, Fan; Chang, Dong Kyung; Hu, Fulan; Shu, Hong; Han, Bing; Li, Dandan; Zhao, Yong

doi:10.1158/1055-9965.epi-07-2507

Cited by 72 publications

(54 citation statements)

References 64 publications

(17 reference statements)

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“…Given the lack of direct functional measures of DNA repair capacity associated with the different polymorphisms, it is difficult to integrate the sometime divergent results of the existing studies on XPD and XRCC1. The meta-analyses for XPD and XRCC1 polymorphisms suggested that XPD 751 and XRCC1 399 polymorphisms might not be associated with bladder cancer susceptibility, except that XRCC1 399 Gln/Gln genotype decreased susceptibility of bladder cancer under recessive model and homozygote contract among ever-smokers (30,36,37). The results from our present study suggest that individuals who have the XPD 751 Gln allele may be at an increased risk for bladder cancer, consistent the results of a previous report (28).…”

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confidence: 88%

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Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk

Gao

Romkes²,

Zhong³

et al. 2010

Oncol Rep

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Abstract. Previous studies have suggested that certain genetic polymorphisms, specifically the Xeroderma pigmentosum group D (XPD) gene codon 751 and the X-ray repair crosscomplementing group 1 (XRCC1) gene codon 399 polymorphisms, were associated with an increased risk of lung cancer, and, in some studies, with a greater risk for mutations in the p53 tumor suppressor gene in lung tumors. To evaluate whether these gene polymorphisms may be associated with an increased risk for bladder cancer or in association with p53 mutation status in bladder tumors, we screened for polymorphisms at XPD codons 751 and XRCC1 codon 399 in DNA isolated from blood of 194 bladder cancer patients and 313 healthy controls and for mutations in exons 4 to 8 of the p53 gene in bladder tumor DNA from 174 bladder cancer patients. There was a significantly higher prevalence of the XPD 751 Gln allele among the bladder cancer group, compared with the control group. No association was found between bladder cancer risk and the XRCC1 399 polymorphism. p53 mutations were found in 20.1% (35/174) patients. There was no difference in p53 mutation status among individuals with different genotypes. These results suggest that individuals who have the XPD 751 Gln allele may be at an increased risk for bladder cancer, although this may not lead to an increased risk for mutations in the p53 gene.

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confidence: 88%

“…The XRCC1 Gln399 polymorphism resulting in single base substitution may affect binding with PARP, leading to a deficiency of DNA repair (27). Epidemiological studies have indicated that these polymorphisms might modify the risk of bladder cancer (4,(28)(29)(30)(31)(32)(33)(34)(35)(36)(37).…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk

Gao

Romkes²,

Zhong³

et al. 2010

Oncol Rep

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“…13,14 Inherited variations in DNA-repair efficiency have been implicated in the predisposition to de novo 15 and therapy-related AML 16,17 and increased susceptibility to a variety of nonhematologic cancers. 18,19 Therefore, it is reasonable to hypothesize that common polymorphisms in genes encoding for proteins of the NER and BER pathways could influence on the likelihood of developing cancer in patients with ET and PV. To test this hypothesis, in the present study, we investigated the association between 5 single nucleotide polymorphisms (SNPs) of 4 critical genes involved in NER and BER mechanisms and the risk of either leukemic transformation or development of new nonmyeloid malignancies in patients with ET and PV.…”

Section: Introductionmentioning

confidence: 99%

A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera

Hernández‐Boluda

Pereira

Cervantes

et al. 2012

Blood

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Patients with essential thrombocythemia (ET) and polycythemia vera (PV) have an increased incidence of acute myeloid leukemia and new nonhematologic malignancies compared with the general population. However, information on the factors determining the risk for such complications is limited. In the present study, we investigated whether constitutional genetic variations in DNA repair predispose to leukemic transformation and new nonmyeloid neoplasias in patients with ET and PV. Case-control studies for predispo-

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“…Several functional genetic variants, particularly nonsynonymous polymorphisms, have been identified in the XPD, XPG, APE1, XRCC1 and ADPRT genes, and have shown a relationship with DRC variation and susceptibility to multiple cancers (14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26). Additionally, several reviews were also published to summarize the associations between functional variants of DNA repair genes and cancer risk, including HNC, and have provided meaningful results (17,20,26 …”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population

Yuan

et al. 2012

Experimental and Therapeutic Medicine

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Abstract. Although tobacco and alcohol consumption are the major risk factors of head and neck cancer (HNC), genetic variations of genes involved in several biological pathways, such as DNA repair genes, may affect an individual's susceptibility to HNC. However, few studies have investigated the associations between polymorphisms in DNA repair genes and HNC risk in the Chinese population. Thus, we genotyped five common, non-synonymous single-nucleotide polymorphisms (SNPs) [APEX1 (Asp148Glu), XRCC1 (Arg399Gln), ADPRT (Val762Ala), XPD (Lys751Gln) and XPG (His1104Asp)] in a hospital-based, case-control study of 397 HNC cases and 900 cancer-free controls in China. The results showed that none of the five SNPs in the DNA repair pathway was significantly associated with HNC risk, suggesting that these polymorphisms may not play a major role in HNC susceptibility in this Chinese population. IntroductionThe incidence of head and neck cancer (HNC), especially squamous cell carcinoma of the head and neck (SCCHN), has markedly increased in the past 20 years and is now the fifth most common type of cancer worldwide (1). In the United States, it is estimated that there were 48,010 new cases and 11,260 deaths from SCCHN in 2010 (2). Accumulative evidence indicates that exposure to smoking and alcohol consumption are important risk factors of HNC (3); however, only few smokers and drinkers develop HNC, suggesting an individual susceptibility to this cancer in the general population. Most association studies on cancer susceptibility have focused on identifying effects of single-nucleotide polymorphisms (SNPs) in candidate genes of several pathways. Among these, genes involved in the DNA repair pathway are the most investigated due to their vital role in protecting the genome from insults of environmental carcinogens (4,5). Studies have shown inter-individual variations of DNA repair capacity (DRC) in the general population and the effect of a suboptimal DRC on the risk of smoking-related cancers, such as lung cancer and SCCHN (6-8).Of DNA repair pathways, nucleotide excision repair (NER) is the major repair mechanism for the DNA damage caused by tobacco smoking, which deals with a wide class of DNA damages, including bulky adducts cross-links, oxidative DNA damage, thymidine dimers and alkylating damage (9). NER involves more than 20 proteins whose inactivation may lead to xeroderma pigmentosum (XP) or Cockayne syndrome (CS). For example, rare mutations in xeroderma pigmentosum complementation group D and G (XPD and XPG) give rise to a combined XP/CS phenotype and are associated with severe neurological abnormalities.The base excision repair (BER) pathway is another important mechanism that repairs DNA damage resulting from chemical alterations of a single base; a number of proteins are involved in repair steps, such as apurinic/apyrimidinic endonuclease (APE1, also known as APEX1), X-ray repair crosscomplementing 1 (XRCC1) and ADP-ribosyltransferase (ADPRT, also known as PARP1) (10). APE1 is a key member in short-patch BER, w...

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DNA Repair Gene XPD Polymorphisms and Cancer Risk: A Meta-analysis Based on 56 Case-Control Studies

Cited by 72 publications

References 64 publications

Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk

Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk

A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera

Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population

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