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

Abstract

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

Lack of Association of Intron 3 16 bp Polymorphism of TP53 with Breast Cancer among Iranian-Azeri Patients

“…Several polymorphisms have been identified in coding and noncoding regions of p53 that some of them have been associated with increased risk of cancer (Whibley et al, 2009). Three p53 well studied functional polymorphisms include Arg/Pro polymorphism in exon 4, 16 bp duplication in intron 3 (PIN3) and intron 6 G13964C alteration (Guleria et al, 2012), although two studies in India showed no link between polymorphisms and breast cancer (Roy et al, 2012;Vijayaraman et al, 2012) It has been reported that the 16 bp duplication in intron 3 is correlated with a reduced level of p53 mRNA and decreased both DNA repair capacity and apoptotic indices in lymmphoblastoid cell lines (Wu et al, 2013;Gemignani et al, 2004). Recently, several meta-analyses have highlighted the association between PIN3 and increased risk of cancer predisposition (Hu et al, 2010;He et al, 2011;Sagne et al, 2013;Wu et al, 2013).…”

TP53 Polymorphisms in Sporadic North Indian Breast Cancer Patients

“…Similarly, no association between TP53 codon 72 variants and breast cancer risk was observed in Japanese (Kawajiri et al, 1993), Pakistani (Khaliq et al, 2000), Tunisian (Mabrouk et al, 2003), Finnish (Tommiska et al, 2005), Iranian (Khadang et al, 2007), Brazilian (Vieira et al, 2008) and South Indian populations (Suresh et al, 2011;Vijayaraman et al, 2012). Contrary to our results, association between RR genotype and breast cancer risk have been reported in Turkish (Buyru et al, 2003), Italian (Bonafe et al, 2003), Jewish (Ohayon et al, 2005), Greek (Papadakis et al, 2000;Kalemi et al, 2005), Brazilian (Damin et al, 2006;Aoki et al, 2009) and Chinese (Ma et al, 2006) population.…”

The Evaluation of p53 Polymorphism at Codon 72 and Association With Breast Cancer in Iran: A Systematic Review and Meta-analysis

“…A lot of studies have been conducted to evaluate the role that these three genotypes play in breast cancer worldwide and have reported different results in this field. For example, the studies of Khadang et al,13 Kazemi et al,14 and Agorastos et al15 in Greece and Vijayaraman et al16 in southern part of Maduria found no significant relationship between polymorphism of this codon in p53 gene and breast cancer. In contrast, the studies of Sheikhpour and Zahir17 and Golmohammadi and Namazi18 showed a significant relationship.…”