p53 Codon 72 arginine/proline polymorphism and cancer in Sudan

Eltahir, Huda A.; Adam, Ameera A. M.; Yahia, Zeinab A; Ali, Noon F.; Mursi, Dalia M.; Higazi, Ashraaf M.; Eid, Nahid Awadelseid; Elhassan, Ahmed M.; Mohammed, Hiba S.; Ibrahim, Muntaser E.

doi:10.1007/s11033-012-1978-0

Cited by 20 publications

(16 citation statements)

References 13 publications

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“…In contrast, a Brazilian population had a high prevalence of the Arg/Arg genotype and there was no correlation between the polymorphism and the risk of cancer in colorectal carcinoma (Lima et al, 2006), which was corroborated by the results for head and neck squamous cell carcinoma (Mojtahedi et al, 2010). Once more, the population profile seems to be an important cause of discrepancies in the association between the polymorphism and the frequency of disease (Eltahir et al, 2012). The data reported in these studies from different regions of the world have convinced us that caution is required when interpreting observations about this polymorphism, bearing in mind the characteristics presented by each studied population.…”

Section: Discussionmentioning

confidence: 94%

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Almeida¹,

Kleine²,

Camargo-Kosugi³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 participants; the cancer-free control subjects were 26-72 years old (41 ± 11.03) and the BC patients were 28-80 years old (51 ± 10.70). We used standard polymerase chain reaction-restriction fragment length polymorphism and confirmed the results by genetic sequencing. In TP53*11, there was 100% homozygous Glu distribution in both groups. TP53*72 showed genotypic distribution: in the control group, there was 16.10% homozygous Pro, and 42.44% heterozygous and 41.46% homozygous Arg; in the BC group, there was 15.43% homozygous Pro, and 42.55% heterozygous and 42.02% homozygous Arg. The relative frequency of each allele was 0.37% for Pro and 0.63% for Arg in the control group, and 0.37% for Pro and 0.63% for Arg in the BC group. The nuclear grade (P = 0.0084) and adapted histological grade (P = 0.0265) were associated with TP53*72. The distribution of the codon 72 genotypes did not deviate from Hardy-Weinberg equilibrium in either group. In TP53*248, there was 100% homozygous Arg distribution in both groups. In codon 72, the Arg allele is the most prevalent in Brazilian women. TP53*72 may be associated with susceptibility to BC, although more studies are required to evaluate the profile of Brazilian women with BC.

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Section: Discussionmentioning

confidence: 94%

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Almeida¹,

Kleine²,

Camargo-Kosugi³

et al. 2016

Genet. Mol. Res.

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“…We recently reported a striking risk association between the p53 arginine allele and breast cancer in Sudanese individuals [35], an unusual example of a common polymorphism with a major effect (OR= 13). This polymorphism has a known geographic pattern of a north South cline [36], which brings into consideration the geographical conditioning of the association between EBV and nasopharyngeal carcinoma endemicity, a known EBV associated tumour, around the tropics [37].…”

Section: Discussionmentioning

confidence: 99%

Epstein Barr virus: a prime candidate of breast cancer aetiology in Sudanese patients

Yahia

Adam

Elgizouli

et al. 2014

Infect Agents Cancer

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Breast cancer is the commonest cancer in Sudanese women. Reported genetic alterations in the form of mutations in tumor suppressors are low in frequencies and could not explain the peculiarities of the diseases including its focal nature. Potential contributors disease aetiology include oncogenic viruses such as Epstein-Barr virus (EBV), an established culprit of nasopharyngeal carcinoma, one of the most frequent cancers in Sudan.In this study, DNA was extracted from malignant tissue samples and healthy tumour-free tissue from the same breast. Polymerase chain Reaction (PCR) was used to amplify two genes encoding for EBV viral proteins. The presence of Epstein-Barr virus and its cellular localization was confirmed by in situ hybridization (ISH) for Epstein-Barr encoded small RNAs (EBERs). Given the reported low frequency of mutations in BRCA1 and BRCA2 in Sudanese breast cancer patients, the methylation status of six tumor suppressor genes was investigated using methylation specific PCR. EBV genome was detected in 55.5% (n = 90) of breast cancer tissues as compared to 23% in control tissue samples (p = 0.0001). Using ISH, EBV signal was detected in all 18 breast cancer biopsies examined while all five normal breast tissue biopsies tested were negative for EBV. Of six tumour suppressor genes investigated BRCA1, BRCA2, and p14 appeared to be under strong epigenetic silencing.In conclusion, we present evidence of a strong association between EBV and breast carcinoma in Sudanese patients, and considerable epigenetic silencing of tumor suppressors that may likely be an outcome or an association with viral oncogenesis.

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“…Ras [3], mdm2 [4] and VEGF [5]) and tumor suppressor genes (e.g. p53 [6], Rb, and p16 [7]) may protect or increase susceptibility towards cancer risk. Thus, SNP analysis can be a tool for explaining the genetic complexities responsible for the cancer development to some extent.…”

Section: Introductionmentioning

confidence: 99%

Lack of Association between Bax Promoter (-248G>A) Single Nucleotide Polymorphism and Susceptibility towards Cancer: Evidence from a Meta-Analysis

Sahu

Choudhuri

2013

PLoS ONE

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BackgroundThe Bcl-2-associated X protein (Bax) is a proapoptotic member of the Bcl-2 family known to be activated and upregulated during apoptosis. Single nucleotide polymorphisms (SNPs) in Bax promoter may participate in the process of carcinogenesis by altering its own expression and the cancer related genes. Bax-248G>A polymorphism has been implicated to alter the risk of cancer, but the listed results are inconsistent and inconclusive. In the present study, we performed a meta-analysis to systematically summarize the possible association of this polymorphism with the risk of cancer.MethodologyWe conducted a search of case-control studies on the associations of Bax-248G>A polymorphism with susceptibility to cancer in Pub Med, Science Direct, Wiley Online Library and hand search. Data from all eligible studies based on some key search terms, inclusion and exclusion criteria were extracted for this meta-analysis. Hardy-Weinberg equilibrium (HWE) in controls, power calculation, heterogeneity analysis, Begg’s funnel plot, Egger’s linear regression test, forest plot and sensitivity analysis were performed in the present study.ResultsCancer risk associated with Bax-248G>A polymorphism was estimated by pooled odds ratios (ORs) and 95% confidence intervals (95% CIs). The pooled ORs were calculated in allele contrast, homozygous comparison, heterozygous comparison, dominant and recessive model. Statistical significance was checked through Z and p-value in forest plot. A total of seven independent studies including 1772 cases and 1708 controls were included in our meta-analysis. Our results showed that neither allele frequency nor genotype distributions of this polymorphism were associated with risk for cancer in any of the genetic model. Furthermore, Egger’s test did not show any substantial evidence of publication bias.Conclusions/SignificanceThis meta-analysis suggests that the Bax-248G>A polymorphism is not an important cancer risk factor. Nevertheless, additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are required to further validate the results.

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p53 Codon 72 arginine/proline polymorphism and cancer in Sudan

Cited by 20 publications

References 13 publications

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Epstein Barr virus: a prime candidate of breast cancer aetiology in Sudanese patients

Lack of Association between Bax Promoter (-248G>A) Single Nucleotide Polymorphism and Susceptibility towards Cancer: Evidence from a Meta-Analysis

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