Genetic polymorphisms in DNA base‐excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck

Li, Chunying; Hu, Zhibin; Lü, Jiachun; Liu, Zhensheng; Wang, Li E.; El‐Naggar, Adel K.; Sturgis, Erich M.; Spitz, Margaret R.; Wei, Qingyi

doi:10.1002/cncr.22861

Cited by 71 publications

(60 citation statements)

References 86 publications

(120 reference statements)

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“…The Val762Ala polymorphism (rs1136410) is located in exon 17 of ADPRT, leading to an amino acid exchange of valine to alanine. Although it has been suggested that the Val762Ala polymorphism contributes to altered ADPRT activity and carcinogenesis (63), only one study by Li et al has investigated the association of this SNP with SCCHN risk in the Caucasian population and found a protective effect of 762Ala allele on SCCHN risk (25). However, our current data provide evidence that this SNP does not have an effect on susceptibility to HNC risk in the Chinese population.…”

Section: Discussioncontrasting

confidence: 64%

“…The Asp148Glu polymorphism (rs3136820) is a T to G transversion at codon 148 of exon 5 in APE1 and it has been reported to be related to hypersensitivity to ionizing radiation (53). Several studies have investigated the associations between Asp148Glu and cancer risk, but only two from Caucasians focused on HNC risk and neither found significant results (25,54).…”

Section: Discussionmentioning

confidence: 99%

“…The Arg399Gln polymorphism (rs25487) is located at the region of the BRCT-I interaction domain of XRCC1 and is linked with the reduced DRC (56,57). This polymorphism has been extensively investigated for its associations with cancer risk and the results were conflicting in different types of cancer or different populations (58)(59)(60)(61); however, a meta-analysis including 7 studies indicated that Arg399Gln was not significantly associated with SCCHN risk in Caucasians and/or Asians (25), consistent with our findings in this study.…”

Section: Discussionmentioning

confidence: 99%

“…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%

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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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Section: Discussioncontrasting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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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“…Yuan et al [25] conducted a case-control study for a total of 397 HNSCC patients and 900 cancer free controls among the Chinese population and reported that XRCC1 exon 10 codon (Arg 399 Gln) was not significantly associated with HNSCC risk (OR=0.93, 95% CI=0.76-1.13) [25]. Furthermore, there is no significant risk of HNSCC for XRCC1 Arg 399 Gln genotypes among non-Hispanic white populations in the USA [26], the Hungarian population [27], or Polish population [28]. Recently, a meta analysis done by Flores-Obando et al [25] [33].…”

Section: Base Excision Repair (Ber)mentioning

confidence: 99%

Head and Neck Squamous Cell Carcinoma: Prognosis using molecular approach

Mazumder

Nath

et al. 2014

Open Life Sciences

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Head and neck squamous cell carcinoma (HNSCC) is the fifth most prevalent cancer worldwide. Apart from various known clinicopathogical factors, it is still a major concern as many genetic and epigenetic alterations bring about the possibility of this deadly disease. The aim of this review is to explore the possible role of DNA repair pathways and the polymorphic status of DNA repair genes (XPA, XPC, XPD, XRCC1 and XRCC3) in the onset of HNSCC, along with sequence variations in genes such as Glutathione S-transferases (GSTT1, M1 and P1) that are significantly associated with HNSCC risk. We also focus on the p53 gene mutation induced by various etiological agents and threat factors with its implications towards HNSCC, and emphasise the current therapeutic interventions in treating HNSCC.

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Association between PARP‐1 V762A polymorphism and cancer susceptibility: a meta‐analysis

Yu¹,

Ma²,

Yin³

et al. 2011

Genetic Epidemiology

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Background Poly(ADP-ribose) polymerase-1 (PARP-1 catalyzes poly(ADP-ribosyl)ation to various proteins involved in many cellular processes, including DNA damage detection and repair, and cell proliferation and death. PARP-1 has been implicated in human carcinogenesis, but the association between the most-studied PARP-1 V762A polymorphism (rs1136410) and risk of various cancers was reported with inconclusive results. Aims To assess the association between the PARP-1 V762A polymorphism and cancer risk. Methods A meta-analysis of 21 studies with 12027 cancer patients and 14106 cancer-free controls was conducted to evaluate the strength of the association using odds ratio (OR) with 95% confidence interval (CI). Results Overall, no significant association was found between the PARP-1 V762A polymorphism and cancer risk. In the stratified analyses, however, it was found that the variant A allele of the PARP-1 V762A polymorphism was associated with an increased risk of cancer among Asian populations (VA+AA vs.VV: OR = 1.11, 95% CI: 1.01-1.23; Pheterogeneity = 0.210) but a decreased risk of cancer (VA+AA vs.VV: OR =0.89, 95% CI: 0.80-1.00; Pheterogeneity = 0.004), among Caucasian populations, especially for glioma risk (OR = 0.79, 95% CI: 0.69-0.90; Pheterogeneity = 0.800). Conclusions This meta-analysis found evidence for an association of the PARP-1 V 762A polymorphism with increased risk of cancer among Asians but decreased risk of cancer among Caucasians, particularly of glioma. Further well designed studies with large sample sizes of different ethnic populations and different cancer types are warranted to confirm these findings.

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Genetic polymorphisms in DNA base‐excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck

Cited by 71 publications

References 86 publications

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

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

Head and Neck Squamous Cell Carcinoma: Prognosis using molecular approach

Association between PARP‐1 V762A polymorphism and cancer susceptibility: a meta‐analysis

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