The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece

Kalemi, Theodora G.; Lambropoulos, Alexandros; Gueorguiev, Maria; Chrisafi, Sofia; Papazisis, Konstantinos; Kotsis, A.

doi:10.1016/j.canlet.2004.11.025

Cited by 90 publications

(62 citation statements)

References 27 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%

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%

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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“…A meta-analysis including data from this study and 21 previously published studies [5][6][7][8][9][10][11][12][13][14][27][28][29][30][31][32][33] showed no association between variant vs. common homozygote genotypes for MTHFR A222V and breast cancer risk [summary OR (95% CI) 5 0.99 (0.86-1.15), based on 8,330 cases and 10,825 controls]. Similarly, a meta-analysis including data from our study and 12 previously published studies 5,6,8,9,13,14,27,28 showed no evidence for an overall association for MTHFR E429A (summary OR 5 1.00; 95% CI 0.85-1.17 based on 6,521 cases and 8,515 controls; Table III).…”

Section: Meta-analysesmentioning

confidence: 99%

Genetic polymorphisms in the one‐carbon metabolism pathway and breast cancer risk: A population‐based case–control study and meta‐analyses

Lissowska

Gaudet

Brinton

et al. 2007

Intl Journal of Cancer

108

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Epidemiological evidence suggests that intake of folate and other B-vitamins and genetic variants in the one-carbon metabolism pathway could influence the risk of breast cancer. Previous studies have focused on 2 polymorphisms in the methylenetetrahydrofolate gene (MTHFR A222V and E429A); however, findings are inconclusive. In a large population-based case-control study in Poland (2,386 cases, 2,502 controls), we investigated the association between breast cancer risk and 13 polymorphisms in 6 onecarbon metabolism genes (MTHFR, MTR, MTRR, CBS, SHMT1 and SLC19A1). Data suggested an association between a nonsynonymous change in the gene coding for methionine synthase (MTR D919G) and reduced breast cancer risk: OR (95% CI) 5 0.84 (0.73-0.96) and 0.85 (0.62-1.15) for heterozygous and homozygote variant genotypes, respectively, compared with common homozygotes; p-trend 5 0.01, false discovery rate 5 0.14. We found no significant associations between other variants and breast cancer risk, including MTHFR A222V or E429A. Metaanalyses including published studies of MTHFR A222V (8,330 cases and 10,825 controls) and E429A (6,521 cases and 8,515 controls) supported the lack of an overall association; however, studies suggested an increase in risk among premenopausal women. In conclusion, this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk. ' 2007 Wiley-Liss, Inc.Key words: folate metabolism; single nucleotide polymorphism; breast cancer Alterations in the one-carbon metabolism pathway can influence DNA methylation, synthesis and repair, which play a critical role in carcinogenesis. Dietary factors involved in this pathway include folate and methionine which can influence the supply of methyl groups, other B-vitamins (B2, B6 and B12) which are cofactors for enzymes in this pathway, and vitamin B12 and alcohol intake which can modify the biological response to inadequate dietary folate. 1 Some, although not all, epidemiological studies have found an inverse association between breast cancer risk and folate intake, 2 with weaker evidence for other B-vitamins. [3][4][5][6] Polymorphisms in critical enzymes involved in one-carbon metabolism could also influence the risk of cancer in conjunction with folate and methionine intake, as well as other B-vitamins. Most epidemiological studies of breast cancer have focused on 2 putative functional polymorphisms in the methylenetetrahydrofolate gene (MTHFR A222V and E429A) involved in the conversion of N 5 ,N 10 -methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major circulating form of folate; however, findings are inconclusive. 5-14 A recently published meta-analysis of studies showed no evidence for an association between MTHFR A222V and breast cancer risk in postmenopausal women; however, it suggested an association in premenopausal women. 15 Studies have also suggested an interaction between folate and variants of MTHFR. 5,6,8,13 Variation in other genes in the one-...

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“…The P53 codon 72 (Arg72Pro) polymorphism, located in exon 4, has been investigated in numerous types of cancer (11). Substitution of a guanine base for cytosine in this codon leads to the replacement of an arginine amino acid to proline, which influences the activity of the resulting protein (12). The proline variant is effective in the repair of DNA damage, while the arginine variant leads to a strong induction of apoptosis (13).…”

Section: Introductionmentioning

confidence: 99%

Association of P53 gene polymorphism with gastric cancer in Northern Iran as a high‑risk region

et al. 2018

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Abstract. Gastric cancer has the fourth highest morbidity rate of all cancers worldwide. Genetic factors including alterations in oncogenes and tumor suppressor genes serve an important role in gastric cancer development and progression. The P53 gene acts as a tumor suppressor gene by regulating the cell cycle, DNA transcription and repair, apoptosis, senescence and genome stability. In addition to somatic P53 mutations in cancer development, germline polymorphisms are also involved in different malignancies. The polymorphism of P53 at codon 72 (Arg72Pro) is established as a common variant that increases susceptibility to various cancers. The present case-control study was conducted to evaluate the possible association between this P53 polymorphism and gastric cancer in the Iranian population. A total of 59 patients with gastric cancer and 59 healthy controls were enrolled in the present study. Genomic DNA was extracted from peripheral blood mononuclear cells and genotype analysis was performed using a polymerase chain reaction-based restriction fragment length polymorphism assay. Genotype frequencies did not differ significantly between the patients and controls (P=0.4); the frequencies of the three genotypes Arg/Arg, Arg/Pro and Pro/Pro in gastric cancer patients were 28.8, 49.2 and 22.0%, and in controls were 37.3, 49.2 and 13.6%. Additionally, there were no differences in genotype frequencies based on tumor location, histological differentiation or tumor stage. Based on these findings, it may be concluded that the P53 codon 72 polymorphism does not contribute to gastric cancer susceptibility in Northern Iran. IntroductionGastric cancer has the third highest mortality and fourth highest morbidity rates of all cancers worldwide (1). In 2012, GloboCan statistics reported almost 1 million new cases of gastric cancer, and more than 700,000 mortalities caused by gastric cancer (1). Gastric cancer is a multifactorial disorder, in which genetic and environmental interactions serve an important role in development and progression (2). Increasing age, gender, lifestyle, dietary regime, environmental factors and Helicobacter pylori infections are among the known risk factors for stomach cancer (3,4). While dietary regime and lifestyle are the most recognized factors, more effective identification of the genetic risk factors is expected to improve understanding of the basic molecular events involved in tumorigenesis (5). Various genetic and epigenetic changes that have the potential to convert normal epithelial cells in the stomach into malignant neoplasms may be responsible for the development of both familial and sporadic gastric cancer (6,7). Studies performed recently have demonstrated that a high number of genes and various environmental factors are the causal agents of gastric cancer, and the presence of different forms of alleles in genes (polymorphisms) may promote the development of cancers; in this regard, the P53 gene has been a research focus due to its role as a major tumor suppressor gene (8,9). The P53 ge...

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The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece

Cited by 90 publications

References 27 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

Genetic polymorphisms in the one‐carbon metabolism pathway and breast cancer risk: A population‐based case–control study and meta‐analyses

Association of P53 gene polymorphism with gastric cancer in Northern Iran as a high‑risk region

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