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TitleImportance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer
Author(s)Costa, Sandra
Pinto, Daniela
Pereira, Deolinda
Rodrigues, Helena
Cameselle-Teijeiro, Jorge
Medeiros, Rui
Schmitt, Fernando
Breast Neoplasms
Case-Control Studies
DNA, Neoplasm
Genetic Predisposition to Disease
Lymphatic Metastasis
Middle Aged
Polymorphism, Genetic
Genes, p53
Issue date29-Jan-2008
PublisherBioMed Central (BMC)
JournalBMC Cancer
Abstract(s)Background: TP53 is one of major tumour suppressor genes being essential in preservation of genome integrity. Two very common polymorphisms have been demonstrated to contribute to cancer susceptibility and tumour behaviour. The purpose of this study was to evaluate the role of Arg72Pro and PIN3 Ins16bp polymorphisms in TP53 gene as genetic susceptibility and predictive markers to breast cancer.Methods: We analysed DNA samples from 264 breast cancer patients and 440 controls, for TP53 Arg72Pro and PIN3 Ins16bp polymorphisms using PCR-RFLP.Results: We observed that women with A2A2 genotype have increased risk for developing breast cancer, either in women with or without familial history (FH) of the disease (OR = 4.40, 95% CI 1.60 - 12.0; p=0.004; OR=3.88, 95% CI 1.18 - 12.8; p=0.026, respectively). In haplotype analysis, statistically significant differences were found between TP53 Arg-A2 haplotype frequencies and familial breast cancer cases and the respective control group ( OR=2.10, 95% CI 1.08 - 4.06; p=0.028). Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.Conclusion: Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer. Furthermore, both TP53 polymorphisms are associated with higher incidence of lymph node metastases.
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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