Polymorphisms in DNA damage response genes and head and neck cancer risk

Flores‐Obando, Rafael E.; Gollin, Susanne M.; Ragin, Camille

doi:10.3109/13547501003797664

Cited by 46 publications

(50 citation statements)

References 69 publications

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“…Recently, a meta-analysis with a total of 12 studies claimed that the XPD Lys751Gln polymorphism was not associated with HNC risk (17); however, no genotyping data from the Chinese population was included, with the exception of a Taiwan study with a small sample size of 154 cases and 105 controls (30). Our findings were consistent with those from the meta-analysis, suggesting that the XPD Lys751Gln polymorphism may not play a role in the susceptibility to HNC.…”

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%

“…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: 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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“…There has been increasing evidence that DNA damage plays a critical role in the carcinogenesis of most cancers and DNA En-Jiao Zhang 1 , Zhi-Gang Cui 2 , Zhong-Fei Xu 1 , Wei-Yi Duan 1 , Shao-Hui Huang 1 , Xue-Xin Tan 1 , Zhi-Hua Yin 3 , Chang-Fu Sun 1 , Li Lu 1 * repair genes are considered key genes associated with the onset of cancer (Berwick et al, 2000;Poirier, 2012;Jin et al, 2013). Some repair genes have been reported to be associated with oral cancer (Sugimura et al, 2006;Bau, 2012), including the X-ray repair cross complementing 3 (XRCC3) gene (Flores-Obando et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Lack of Influence of an XRCC3 Gene Polymorphism on Oral Cancer Susceptibility: Meta-analysis

Zhang

Cui²,

Xu³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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-1.11). In the stratified analysis by ethnicity, no significant associations were found among Asians and Caucasians. On stratification by tumor type, no significant associations were found for cancer and oral premalignant lesions. Conclusions: The XRCC3 gene polymorphism was not found to be associated with the risk of oral cancer. Considering the limited quality of the included case-control studies, more high quality studies with large sample size are needed to verify the above conclusion.

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“…HNSCC has been strongly associated with chewing tobacco and slaked lime, betel nut or betel quid chewing, tobacco smoking and alcohol consumption [3]. Although epidemiologically strongly associated with such factors, poor oral health, exposure to human papillomavirus (HPV), exposure to environmental carcinogens and genetic polymorphisms in carcinogen metabolizing enzymes, like glutathione-S-transferases (GSTs) and DNA repair genes have also been found to play a definite role in the prognosis of HNSCC [4].…”

Section: Introductionmentioning

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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Polymorphisms in DNA damage response genes and head and neck cancer risk

Cited by 46 publications

References 69 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

Lack of Influence of an XRCC3 Gene Polymorphism on Oral Cancer Susceptibility: Meta-analysis

Head and Neck Squamous Cell Carcinoma: Prognosis using molecular approach

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