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BMC Cancer
Published in: BMC Cancer 1/2008

Open Access 01-12-2008 | Research article

Importance of TP53 codon 72 and intron 3 duplication 16bppolymorphisms in prediction of susceptibility on breast cancer

Authors: Sandra Costa, Daniela Pinto, Deolinda Pereira, Helena Rodrigues, Jorge Cameselle-Teijeiro, Rui Medeiros, Fernando Schmitt

Published in: BMC Cancer | Issue 1/2008

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Abstract

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.
Appendix
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Metadata
Title
Importance of TP53 codon 72 and intron 3 duplication 16bppolymorphisms in prediction of susceptibility on breast cancer
Authors
Sandra Costa
Daniela Pinto
Deolinda Pereira
Helena Rodrigues
Jorge Cameselle-Teijeiro
Rui Medeiros
Fernando Schmitt
Publication date
01-12-2008
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2008
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-8-32

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