TP53 codon 72 polymorphism and risk for cervical cancer in Portugal

Santos, Alexandra M.; Sousa, Hugo; Catarino, Raquel; Pinto, Daniela; Pereira, Deolinda; Vasconcelos, André; Matos, Ana; Lopes, Carlos; Medeiros, Rui

doi:10.1016/j.cancergencyto.2004.10.005

Cited by 40 publications

(26 citation statements)

References 44 publications

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“…2,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] Whereas the Arg72Pro polymorphism is important for the tumor suppressor function of p53/p73 proteins, we investigated the genotypic frequency of p53 codon 72 polymorphism in the healthy Croatian population, and compared the frequencies of Arg/Arg, Arg/Pro and Pro/Pro genotypes, as well as Arg and Pro alleles with the population of other countries worldwide.…”

Section: Introductionmentioning

confidence: 99%

The Arg72Pro Polymorphism of TP53 in Croatian Population

Zorić¹,

Horvat²,

Balija³

et al. 2012

Croat. Chem. Acta

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Abstract. Single nucleotide polymorphisms of TP53 gene in human populations are expected to cause perturbation of p53 function, and therefore could influence risk and/or progress of disease. There are differences in inducing apoptosis, cell cycle arrest, transcriptional activity, protein interactions between variants in codon 72 (Arg72Pro), although the association of polymorphism and risk of cancer is controversial. The aim of our study was to investigate the frequency of alleles and genotypes of Arg72Pro polymorphism in the ethnically homogenous Croatian population and to compare it with the worldwide populations. In a cohort of 576 participants the genotype frequencies of Arg/Arg, Arg/Pro and Pro/Pro are 54.34, 38.71 and 6.95 %, respectively. We statistically sorted the population of Croatia into the same group with other European populations and Caucasians from North America. This finding is important for the molecular pathways studies involved in disease as well as in pharmacogenetic studies.

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Section: Introductionmentioning

confidence: 99%

The Arg72Pro Polymorphism of TP53 in Croatian Population

Zorić¹,

Horvat²,

Balija³

et al. 2012

Croat. Chem. Acta

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“…The polymorphism of the p53 gene at codon 72 is considered as a risk factor of the human papillomavirusassociated cervical neoplasia and ESCC (30,31). However, it remains controversial in several studies (32).…”

Section: Introductionmentioning

confidence: 99%

Dietary Selenium Intake and Genetic Polymorphisms of the GSTP1 and p53 Genes on the Risk of Esophageal Squamous Cell Carcinoma

Cai

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Few studies have assessed potential effect modifications by polymorphisms of susceptibility genes on the association between selenium intake and esophageal squamous cell carcinoma (ESCC). We studied the joint effects of dietary selenium and the GSTP1 and p53 polymorphisms on ESCC risk in a population-based case-control study with 218 ESCC cases and 415 controls in Taixing City, China. Dietary selenium intake was estimated from a food frequency questionnaire with 97 food items. GSTP1 and p53 polymorphisms were detected by RFLP-PCR assays. Logistic regression analyses were done to estimate odds ratios (OR) and 95% confidence intervals (95% CI). Reduced ESCC risk was observed among individuals in the highest quartile of dietary selenium intake (adjusted OR, 0.31; 95% CI, 0.13-0.70) with a dose-dependent gradient (P trend = 0.01).

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“…The single-nucleotide polymorphism at codon 72 of the TP53 gene resulting in two different amino acids (Pro or Arg) is one of the most extensively studied single-nucleotide polymorphisms that have been shown to influence cancer incidence in a number of cancer types, including cervical cancer (8). Single-nucleotide polymorphisms in other TP53 pathway-related genes, such as those in the promoter regions of the MDM2 and TP53BP1 genes, have also been shown to influence cancer risk (9,10).…”

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confidence: 99%

An miR-502–Binding Site Single-Nucleotide Polymorphism in the 3′-Untranslated Region of the SET8 Gene Is Associated with Early Age of Breast Cancer Onset

Song

Zheng

Liu

et al. 2009

Clinical Cancer Research

102

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Purpose: MicroRNAs regulate gene expression by binding to the 3′-untranslated region (UTR) of target genes. Single-nucleotide polymorphisms of critical genes may affect their regulation by microRNAs. We have identified a single-nucleotide polymorphism within the miR-502 seed binding region in the 3′-UTR of the SET8 gene. SET8 methylates TP53 and regulates genome stability. We investigated the role of this SET8 singlenucleotide polymorphism and in concert with the TP53 codon 72 single-nucleotide polymorphism in the propensity for onset of breast cancer. Experimental Design: We measured the SET8 single-nucleotide polymorphisms in a case-control study on 1,110 breast cancer cases and 1,097 controls. Results: The SET8 CC and TP53 GG genotypes were independently associated with an earlier age of breast cancer onset in an allele-dose-dependent manner (for SET8, 52.2 years for TT, 51.4 for TC, and 49.5 for CC; and for TP53, 53.1 years for CC, 51.5 for GC, 50.7 for GG). Individuals with combined SET8 CC and TP53 GG genotypes developed cancer at a median age of 47.7 years as compared with 54.6 years for individuals with combined SET8 TT and TP53 CC genotypes. In the 51 breast cancer tissue samples tested, the SET8 CC genotype was associated with reduced SET8, but not miR-502, transcript levels. Conclusions: These data suggest that the miR-502-binding site single-nucleotide polymorphism in the 3′-UTR of SET8 modulates SET8 expression and contributes to the early development of breast cancer, either independently or together with the TP53 codon 72 single-nucleotide polymorphism. Larger studies with multiethnic groups are warranted to validate our findings. (Clin Cancer Res 2009;15(19):6292-300)

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TP53 codon 72 polymorphism and risk for cervical cancer in Portugal

Cited by 40 publications

References 44 publications

The Arg72Pro Polymorphism of TP53 in Croatian Population

The Arg72Pro Polymorphism of TP53 in Croatian Population

Dietary Selenium Intake and Genetic Polymorphisms of the GSTP1 and p53 Genes on the Risk of Esophageal Squamous Cell Carcinoma

An miR-502–Binding Site Single-Nucleotide Polymorphism in the 3′-Untranslated Region of the SET8 Gene Is Associated with Early Age of Breast Cancer Onset

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