Evidence for an association of TP53 codon 72 polymorphism with breast cancer risk

Damin, Andréa Pires Souto; Frazzon, Ana Paula Guedes; Damin, Daniel C.; Roehe, Adriana Vial; Hermes, Vanessa Stahl; Zettler, Cláudio Galleano; Alexandre, Cláudio Osmar Pereira

doi:10.1016/j.cdp.2006.09.007

Cited by 70 publications

(55 citation statements)

References 37 publications

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“…In the present study, we have demonstrated that there is no significance for the presence of Arg/Arg or Arg/Pro genotype at codon 72 of the TP53 gene with increased risk of breast cancer. Our findings are not in line with those that detected a higher prevalence of homozygosity for Arg in patients with breast cancer, as reported in women from Greece (Kalemi et al, 2005;Papadakis et al, 2000), Turkey (Buyru et al, 2003) and Southern Brazil (Damin et al, 2006). Keshava et al, 2002 were able to find a higher prevalence of the Arg allele in Caucasian women with breast cancer from New York, but not in Latin or African-American patients.…”

Section: Discussioncontrasting

confidence: 99%

“…Moreover, Pro/Pro genotype was more prevalent in Japanese (Noma et al, 2004) and in Swedish (Sjalander et al, 1996) women with breast cancer, as compared with normal controls (Damin et al, 2006). In Asia, which generally possesses low incidence of breast cancer, the mutation rate of p53 is diverse among different areas (Chen et al, 2004).…”

Section: Discussionmentioning

confidence: 93%

“…Keshava et al, 2002 were able to find a higher prevalence of the Arg allele in Caucasian women with breast cancer from New York, but not in Latin or African-American patients. Ohayon et al, 2005 studied jewish women with breast carcinoma, finding a higher prevalence of the Arg allele among Ashkenazi Jewish and Arab women (Alwadi et al, 2010), a high-risk population for breast cancer (Damin et al, 2006). Contradictory reports are also available in literature implicating that involvement of Arg/Pro heterozygous variant increases the risk of breast cancer from North Indian population.…”

Section: Discussionmentioning

confidence: 99%

“…Somatic mutations of p53 that alter the DNA binding and transactivation function of the p53 protein are known to be involved in diverse types of cancers (Chosdol et al, 2002). Mutations in the TP53 gene are the most common genetic alterations in human cancer and they can be found in 20-30% of the sporadic breast carcinomas (Damin et al, 2006). The wild type of p53 protein exists as two variants: Arg and Pro at codon 72.…”

Section: Introductionmentioning

confidence: 99%

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p53 Exon 4 (codon 72) Polymorphism and Exon 7 (codon 249) Mutation in Breast Cancer Patients in Southern Region(Madurai) of Tamil Nadu

Vijayaraman¹,

Veluchamy²,

Murugesan³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Background: We investigated the association between polymorphisms in the p53 tumor suppressor gene and breast cancer risk in women especially in the Southern part of India. Methods: Genotyping was performed for 50 breast cancer women and 50 controls to determine the status of p53 exon 4 codon 72 polymorphism and exon 7 codon 249 mutation and their possible role in breast cancer risk. Results: Frequency of Arg/Arg at codon 72 was 18% in controls and 28% in patients, Arg/Pro frequency was 56% and 66% , Pro/Pro genotype was 8% in controls and 8% in patients. No significance was observed for breast cancer risk with either Arg/Arg or Pro/ Pro genotype in codon 72 polymorphism. Similarly, mutation analysis of exon 7 codon 249 revealed that 72% of breast cancer patients have mutation, which is not statistically significant. However, there is a strong association between increase in exon 7 codon 249 mutation and exposure to pollution. Conclusion: The results suggested that there is no risk for exon 4 with Arg/Arg or Pro/Pro polymorphisms in the p53 gene and there is no strong correlation between breast cancer patients and mutation in exon 7 codon 249 in South Indian women.Keywords: Breast cancer -p53 -exon 4 codon 72 -exon 7 codon 249 -South India

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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p53 Exon 4 (codon 72) Polymorphism and Exon 7 (codon 249) Mutation in Breast Cancer Patients in Southern Region(Madurai) of Tamil Nadu

Vijayaraman¹,

Veluchamy²,

Murugesan³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…8 However, in the epidemiologic field, even with a considerable number of reports analyzing the p53 Arg72Pro polymorphism and risk of cancer in case-control studies, results remain conflicting rather than conclusive. For breast cancer, for example, results vary from protective [9][10][11][12] to no association [13][14][15] or increase in risk. [16][17][18] Similar conflicting results are also observed for esophageal, [19][20][21][22] lung, [23][24][25] and colorectal cancer [26][27][28] and other cancer types.…”

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confidence: 99%

Arg72Pro TP53 polymorphism and cancer susceptibility: A comprehensive meta‐analysis of 302 case‐control studies

Francisco

Menezes

Eluf-Neto

et al. 2010

Intl Journal of Cancer

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Arg72Pro is a common polymorphism in TP53, showing differences in its biological functions. Case-control studies have been performed to elucidate the role of Arg72Pro in cancer, although the results are conflicting and heterogeneous. Here, we analyzed pooled data from case-control studies to determine the role of Arg72Pro in different cancer sites. We performed a systematic review and meta-analysis of 302 case-control studies that analyzed Arg72Pro in cancer susceptibility. Odds ratios were estimated for different tumor sites using distinct genetic models, and the heterogeneity between studies was explored using I 2 values and meta-regression. We adopted quality criteria to classify the studies. Subgroup analyses were done for tumor sites according to ethnicity, histological, and anatomical sites. Results indicated that Arg72Pro is associated with higher susceptibility to cancer in some tumor sites, mainly hepatocarcinoma. For some tumor sites, quality of studies was associated with the size of genetic association, mainly in cervical, head and neck, gastric, and lung cancer. However, study quality did not explain the observed heterogeneity substantially. Meta-regression showed that ethnicity, allelic frequency and genotyping method were responsible for a substantial part of the heterogeneity observed. Our results suggest ethnicity and histological and anatomical sites may modulate the penetrance of Arg72Pro in cancer susceptibility. This meta-analysis denotes the importance for more studies with good quality and that the covariates responsible for heterogeneity should be controlled to obtain a more conclusive response about the function of Arg72Pro in cancer.The tumor TP53 suppressor gene plays a pivotal role in protecting cells against genotoxic insults of endogenous or environmental agents, which orchestrate a diversity of pathways from transcriptional responses to apoptosis. 1,2 Although TP53 mutations are thought to be associated with carcinogenesis, 3,4 polymorphisms in TP53 seem to have a modest effect on cell phenotype, leading to different patterns of cancer susceptibility. 5 Among known TP53 polymorphisms, 6 Arg72Pro is the most studied, and in vitro assays have demonstrated a differential ability to trigger apoptosis 7 and susceptibility for degradation by the E6 protein of the HPV-16 virus. 8 However, in the epidemiologic field, even with a considerable number of reports analyzing the p53 Arg72Pro polymorphism and risk of cancer in case-control studies, results remain conflicting rather than conclusive. For breast cancer, for example, results vary from protective 9-12 to no association [13][14][15] or increase in risk. [16][17][18] Similar conflicting results are also observed for esophageal, 19-22 lung, 23-25 and colorectal cancer [26][27][28] and other cancer types. To better understand the role of Arg72-Pro, recent meta-analysis studies have been performed for different cancer types, such as lung, 29 gastric, 30 and cervical cancer. 31 However, each of these meta-analyses is restricted to a specif...

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P53 codon 72 polymorphism and gastric cancer: A meta‐analysis of the literature

Zhou

Zhuang

et al. 2007

Intl Journal of Cancer

125

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Studies investigating the association between p53 codon 72 polymorphism and gastric cancer risk report conflicting results. The objective of this study was to quantitatively summarize the evidence for such a relationship. Two investigators independently searched the Medline and Embase databases. This meta-analysis included 12 case-control studies, which included 1,665 gastric cancer cases and 2,358 controls. The combined results based on all studies showed that there was no significant difference in genotype distribution [Arg/Arg odds ratio (OR) 5 0.96, 95% confidence interval (CI) 5 0.79, 1.16; Pro/Pro (OR 5 1.21, 95% CI 5 0.92, 1.58); Pro/Arg (OR 5 0.95, 95% CI 5 0.79, 1.14)] between gastric cancer and noncancer patients. When stratifying for race, results were similar except that patients with gastric cancer had a significantly lower frequency of Arg/Arg (OR 5 0.84, 95% CI 5 0.72, 0.99) than noncancer patients among Asians. Stratified the various studies by the location, stage, Lauren's classification, and histological differentiation of gastric cancer, we found that (i) patients with cardia gastric cancer had a significantly higher frequency of Pro/Pro (OR 5 3.20, 95% CI 5 1.46,7.01) than those with noncardia gastric cancer among Asians; (ii) patients with advanced (stage III/IV) gastric cancer had a significantly higher frequency of Arg/ Arg (OR 5 1.48, 95% CI 5 1.01, 2.16) than those with early (stage I/II) gastric cancer among Asians; (iii) patients with poor differentiation had a significantly lower frequency of Pro/Pro (OR 5 0.13, 95% CI 5 0.03, 0.64) than those with well differentiation among Caucasians. This meta-analysis suggests that the p53 codon 72 polymorphism may be associated with gastric cancer among Asians, and that difference in genotype distribution may be associated with the location, stage, and histological differentiation of gastric cancer. ' 2007 Wiley-Liss, Inc.Key words: gastric cancer; p53 codon 72; gene polymorphism; meta-analysis Gastric cancer, the second leading cause of death from cancer throughout the world, is an important health problem. A 2005 analysis of the worldwide incidence of and mortality from cancer showed that 934,000 cases of gastric cancer occurred in 2002 and that 700,000 patients die annually of this disease. 1 Despite the overall decline in gastric cancer rates in most of the Western World, gastric cancer remains a serious fatal disease throughout much of the rest of the world. Thirty-eight percent of worldwide cases occur in China, where it remains the most common cancer in both sexes as it is elsewhere in Eastern Asia. 2 Conversely, the incidence rates of adenocarcinomas of the proximal stomach and distal esophagus have been increasing, particularly in the Western World. 3 Gastric carcinogenesis is a complex, multistep and multifactorial process, in which many factors are implicated. The majority of gastric cancers are thought to be caused by environmental factors that result in damage to the mucosa and that inhibit its ability to repair itself. This response...

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Evidence for an association of TP53 codon 72 polymorphism with breast cancer risk

Cited by 70 publications

References 37 publications

p53 Exon 4 (codon 72) Polymorphism and Exon 7 (codon 249) Mutation in Breast Cancer Patients in Southern Region(Madurai) of Tamil Nadu

p53 Exon 4 (codon 72) Polymorphism and Exon 7 (codon 249) Mutation in Breast Cancer Patients in Southern Region(Madurai) of Tamil Nadu

Arg72Pro TP53 polymorphism and cancer susceptibility: A comprehensive meta‐analysis of 302 case‐control studies

P53 codon 72 polymorphism and gastric cancer: A meta‐analysis of the literature

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