Germline polymorphism of cancer susceptibility genes in gynecologic cancer

Ueda, Masatsugu; Toji, Eisaku; Nunobiki, Osamu; Izuma, Shinji; Okamoto, Yoshiaki; Torii, Kiyo; Noda, Sadamu

doi:10.1111/j.1749-0774.2008.00058.x

Cited by 17 publications

(15 citation statements)

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“…In recent years, common DNA polymorphisms in low penetrance genes emerged as genetic factors that seem to modulate an individual's susceptibility to malignancy, through interaction with environmental factors, such as diet or smoking 1 . A large number of previous studies have suggested the possible correlation between genetic polymorphisms of cancer susceptibility genes and the higher risk of human malignant tumors 2,3 . Genetic studies, which lead to a true association, are expected to increase understanding of the pathogenesis of each malignancy and to be a powerful tool of prevention and prognosis.…”

Section: Introductionmentioning

confidence: 99%

“…The p53 gene shows a polymorphism at codon 72 with a single‐base change that causes an amino acid replacement in the transactivation domain of the protein of Arg (CGC) by Pro (CCC) 7 . Although the functional differences of these two variants of p53 protein are still unclear, single nucleotide polymorphism (SNP) at codon 72 of the p53 gene has been associated in the last decade with the risk of developing various neoplasms 2,3 …”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms of p53 codon 72 and MDM2 promoter 309 and the risk of endometrial cancer

et al. 2009

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Genetic polymorphisms of p53 and its negative regulator murine double minute 2 homolog (MDM2) have been shown to be closely associated with tumorigenesis in a variety of human cancers. In the present study, single nucleotide polymorphism (SNP) at p53 codon 72 and MDM2 promoter 309 was examined for germline DNA samples from 102 endometrial cancer cases and 95 controls using polymerase chain reaction-based fragment analysis. There were no significant differences in the genotype and allele prevalence between control subjects and endometrial cancer patients for p53 codon 72. The GG genotype frequency of MDM2-SNP309 was statistically higher in endometrial cancer patients than that in normal healthy women when compared with the TG genotype (P= 0.0088). However, no statistically significant differences were found between the TT and TG or GG genotype frequencies and allele prevalence. Interestingly, the combination of the homozygous Arg/Arg genotype of p53 codon 72 and homozygous GG genotype of MDM2 SNP309 polymorphisms was significantly associated with the risk of endometrial cancer (odds ratio = 3.28, 95% confidence interval = 1.13 to 9.53, P= 0.0212). The homozygous variants of wild p53 codon 72 and mutant MDM2 promoter 309 may cooperatively increase the risk of endometrial cancer in a Japanese population.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Polymorphisms of p53 codon 72 and MDM2 promoter 309 and the risk of endometrial cancer

et al. 2009

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“…Fifty-seven were excluded for various reasons (26 studies did not involve CC, 18did not involve polymorphisms, 5 did not include controls, 4 were conducted on overlapping populations, and 4 were review articles). Finally, 23 case-control studies [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40] were included in the GSTM1 genotype meta-analysis (2343 cases and 2662 controls). The meta-analysis included studies from China, India, Japan, Korea, Italy, USA, Greece, Brazil, Turkey, and Thailand.…”

Section: Resultsmentioning

confidence: 99%

Glutathione S-Transferase Polymorphism Interactions with Smoking Status and HPV Infection in Cervical Cancer Risk: An Evidence-Based Meta-Analysis

Zhen

Bian

2013

PLoS ONE

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BackgroundHuman papillomavirus (HPV) infection is considered the major cause of cervical cancer (CC), but a number of infected women do not develop invasive lesions, suggesting the role of genetic susceptibility and environmental co-factors for cancer outbreak. Glutathione S- transferases (GSTs) are multifunctional enzymes that play a key role in the detoxification of varieties of both endogenous products of oxidative stress and exogenous carcinogens.MethodsMEDLINE, EMBASE, and Cochrane databases were searched. All studies evaluating the association between GSTM1 polymorphisms and cervical cancer were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using fixed-or random-effects model.ResultsA total of 23 case-control studies were included in the meta-analysis. The overall result showed that the association between GSTM1 null genotype and risk for cervical cancer was statistically significant (OR = 1.56; 95%CI, 1.39–1.75). Subgroup analyses were performed based on ethnicity, smoking and HPV infection. Our results showed that smokers with null GSTM1 genotype had higher risk of cervical cancer (OR = 2.27, 95%CI, 1.46–3.54). For the ethnicity stratification, significant increased risk of null GSTM1 genotype was found in Chinese and Indian population, but no increased risk in other population was found.Conclusionsthis meta-analysis provided strong evidence that the GSTM1 genotype is associated with CC development, especially in Chinese and Indian populations. Smoking and HPV infection modified the association between the null GSTM1 genotype and CC.

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“…B. Association found between polymorphism in immune and apoptosis-related genes and CC susceptibility [5,6,16,17,34]. C. Role of Fc␥RIIIa in inducing ADCC and apoptosis and the association of V158F with autoimmune diseases and viral infections Percentage referred to total of cases for each group.…”

Section: Discussionmentioning

confidence: 99%

Association of polymorphism in FcGR3A gene and progression of low-grade precursor lesions of cervical carcinoma

et al. 2010

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Germline polymorphism of cancer susceptibility genes in gynecologic cancer

Cited by 17 publications

References 63 publications

Polymorphisms of p53 codon 72 and MDM2 promoter 309 and the risk of endometrial cancer

Polymorphisms of p53 codon 72 and MDM2 promoter 309 and the risk of endometrial cancer

Glutathione S-Transferase Polymorphism Interactions with Smoking Status and HPV Infection in Cervical Cancer Risk: An Evidence-Based Meta-Analysis

Association of polymorphism in FcGR3A gene and progression of low-grade precursor lesions of cervical carcinoma

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