Polymorphisms and mutations found in the regions flanking exons 5 to 8 of the TP53 gene in a population at high risk for esophageal cancer in South Africa

Vos, Marelette; Adams, Craig H; Victor, Thomas C.; Helden, Paul D. van

doi:10.1016/s0165-4608(02)00638-6

Cited by 43 publications

(35 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Comparison between the p53 codon 72 polymorphism distribution in normal control groups from various case/control studies (30)(31)(32)(33)(34) and ESCC cases from this study. Analysed ESCC cases showed a very similar distribution to the control groups of other studies on Caucasians (USA, Poland, Germany).…”

Section: Discussionmentioning

confidence: 99%

“…The differences in the allelic distribution could be explained by the results of the LOH analysis (see below). Lacking a healthy control group the distribution of the p53 codon 72 polymorphism in the germline DNA of our patient cohort was compared to data of healthy controls in previously published studies (30)(31)(32)(33)(34) (Fig. 2).…”

Section: P53 Codon 72 Genotype Distributionmentioning

confidence: 99%

See 1 more Smart Citation

p53 codon 72 polymorphism, loss of heterozygosity and high-risk human papillomavirus infection in a low-incidence German esophageal squamous cell carcinoma patient cohort

Pantelis

Pantelis²,

Ruemmele³

et al. 2007

Oncol Rep

View full text Add to dashboard Cite

Abstract. Epidemiological studies in endemic geographic regions for esophageal squamous cell carcinoma (ESCC) suggested a number of risk factors, including modifications of the p53 tumor suppressor by codon Arg72Pro polymorphism, loss of heterozygosity (LOH) or human papillomavirus type 16 or 18 (HPV 16/18) infection. The p53 Arg72 variant has been suggested to be a high-risk factor in HPV-associated tumors. The present study analysed these associations in a low incidence geographic region in Germany. Fifty-three paraffinembedded tumors and 53 surrounding normal squamous epithelium were investigated. For detection of p53 codon Arg72Pro polymorphism, direct sequencing for exon 4 was conducted. LOH analysis was performed using three microsatellite markers at the p53 gene locus, and all cases were screened for high-risk HPV infection (HPV 16 and 18) with primer specific PCR and confirmed by sequencing. The p53 codon 72 genotype distribution was identical to published studies of normal Caucasian population, suggesting no general influence of this polymorphism on esophageal cancer risk in Germany. One case showed a p53 mutation in exon 4. p53 LOH was found in 13/44 (30%) informative cases without any correlation to histopathological characteristics. Of 53 (17%) samples, 9 showed HPV 16 or 18 infection. We found no association between p53 codon 72 genotypes and increasing HPV infection rates. Interestingly, 8/9 HPV-positive cases showed at least one p53 Arg72 allele. These results indicate an important role of p53 in ESCC also in low-incidence regions. In combination with the p53 Arg72 variant HPV infection could contribute to the risk of ESCC development in these cases, as has been demonstrated for high-risk regions. IntroductionEsophageal squamous cell carcinoma (ESCC) is one of the six most common malignant diseases in the world with a remarkable geographical distribution (1). Environmental exposures such as tobacco, alcohol, chronic mucosal irritation and ethnic background increase the risk of developing ESCC (2). Moreover, genetic changes affecting the p53 tumor suppressor such as different mutations, loss of heterozygosity (LOH) and high-risk human papillomavirus (HPV) infection are important for carcinogenesis in the esophagus. The p53 gene has a common sequence polymorphism resulting in either proline (CCC) or arginine (CGC) at amino-acid position 72. This polymorphism occurs in the proline-rich domain of the protein, which is necessary to induce apoptosis. The Arg72 variant induces apoptosis more effectively than does the Pro72 variant (3). In smokers, several studies have suggested an increased risk of lung cancer associated with the Pro/Pro genotype (4,5). In contrast, Arg/Arg homozygotes are frequently found in non-smoking patients with lung cancer (5,6).Allelic deletions detected as LOH have been proved useful for mapping regions of DNA that contain tumor suppressor genes (7). Cancer lesions show a high frequency of LOH in the p53 tumor suppressor gene locus on chromosome 17p13.1 measured by repetitive DN...

show abstract

Section: Discussionmentioning

confidence: 99%

Section: P53 Codon 72 Genotype Distributionmentioning

confidence: 99%

p53 codon 72 polymorphism, loss of heterozygosity and high-risk human papillomavirus infection in a low-incidence German esophageal squamous cell carcinoma patient cohort

Pantelis

Pantelis²,

Ruemmele³

et al. 2007

Oncol Rep

View full text Add to dashboard Cite

show abstract

“…The level and half-life of p53 in E6 immortalized cell lines or in HPV-positive cervical carcinoma cells have been reported to be generally decreased [28,29] . Certain HPV types such as HPV-16/18 found in SCC of esophagus suggested a model by which E6 degraded cell growth control by elimination of the p53 tumor suppresser protein and led to HPV-associated esophageal SCC [10,30] .…”

Section: Discussionmentioning

confidence: 99%

p53 polymorphism in human papillomavirus-associated Kazakh’s esophageal cancer in Xinjiang, China

Lü

Zhang²,

Lin³

et al. 2004

WJG

View full text Add to dashboard Cite

AIM: To investigate the relationship between p53 codon 72 polymorphism and human papillomavirus (HPV) type 16 infection in Kazakh's esophageal cancer (EC) in Xinjiang, China. METHODS:Encoding regions of p53 codon 72 and HPV-16 E6 were amplified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and polymerase chain reaction (PCR) methods using pairs of primary esophageal squamous cell carcinoma (SCC) tissue and corresponding normal mucosa, which were collected from 104 patients of Kazakh in Xinjiang, China. RESULTS:Only arginine allele was detected in 70.1% (39/55) of HPV-16-E6-positive cases but only in 40.8% (20/49) of HPV-16-E6-negative cases (P<0.05; OR, 3.53; 95% CI, 1.57-7.98). In contrast, such a significant correlation between p53 polymorphism and HPV infection was not evident in corresponding normal mucosae. The allele frequency of Arg allele in cancer cases (0.68) was higher than that in normal mucosa samples (0.54) (P<0.05; OR, 1.80; 95% CI, 1.21-2.69). CONCLUSION: p53 codon 72Arg homozygous genotype is one of the high-risk genetic factors for HPV-associated SCC of Kazakh. Individuals carrying Arg allele compared to those with Pro allele have an increased risk for esophageal SCC.

show abstract

“…However, contradictory data is available, where few studies reported an association while several studies found no association. Positive association between p.R72P polymorphism and EC have previously reported in European and Asian (Kawaguchi et al, 2000), Chinese (Lee et al, 2000;Li et al, 2002;Lu et al, 2004;He et al, 2005;Hong et al, 2005;Cai et al, 2006;Shao et al, 2008;Yang et al, 2008;Ma et al, 2012;Yang et al, 2013), South African (Vos et al, 2003), German (Pantelis et al, 2007), Caucasian (Cescon et al, 2009;Renouf et al, 2013) and Korean (Piao et al, 2011) population. Still other studies which have failed to demonstrate any association between codon 72 variants of TP53 and EC cancer risk have been in Chinese (Guimaraes et al, 2001;Hu et al, 2003), Japanese (Hamajima et al, 2002) and Caucasian (Liu et al, 2010) …”

Section: Introductionmentioning

confidence: 79%

“…To date, there are three reports examining the association between PIN3 ins16bp polymorphism and the risk for EC. Two of these reports found a positive association between A2A2 genotype and EC (Vos et al, 2003;Malik et al, 2011), whereas one study from North India failed to find an association (Umar et al, 2012).…”

Section: Introductionmentioning

confidence: 95%

Analysis of TP53 Polymorphisms in North Indian Sporadic Esophageal Cancer Patients

Kaur

Sambyal²,

Guleria³

et al. 2014

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

Polymorphisms and mutations found in the regions flanking exons 5 to 8 of the TP53 gene in a population at high risk for esophageal cancer in South Africa

Cited by 43 publications

References 25 publications

p53 codon 72 polymorphism, loss of heterozygosity and high-risk human papillomavirus infection in a low-incidence German esophageal squamous cell carcinoma patient cohort

p53 codon 72 polymorphism, loss of heterozygosity and high-risk human papillomavirus infection in a low-incidence German esophageal squamous cell carcinoma patient cohort

p53 polymorphism in human papillomavirus-associated Kazakh’s esophageal cancer in Xinjiang, China

Analysis of TP53 Polymorphisms in North Indian Sporadic Esophageal Cancer Patients

Contact Info

Product

Resources

About