Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer
2008

TP53 Gene Polymorphisms and Breast Cancer Risk

Sample size: 704 publication 10 minutes Evidence: moderate

Author Information

Author(s): Sandra Costa, Daniela Pinto, Deolinda Pereira, Helena Rodrigues, Jorge Cameselle-Teijeiro, Rui Medeiros, Fernando Schmitt

Primary Institution: Life and Health Sciences Research Institute, School of Health Science, University of Minho, Braga, Portugal

Hypothesis

The two common polymorphisms of the TP53 gene play a role in increasing breast cancer susceptibility.

Conclusion

The study suggests that the TP53 PIN3 Ins16bp polymorphism is a significant risk factor for breast cancer, affecting both sporadic and familial cases.

Supporting Evidence

  • Women with A2A2 genotype have a significantly increased risk for developing breast cancer.
  • Statistically significant differences were found in haplotype frequencies between familial breast cancer cases and controls.
  • Both TP53 polymorphisms are associated with a higher incidence of lymph node metastases.

Takeaway

This study looked at two gene changes that might make people more likely to get breast cancer, and found one of them really does increase the risk.

Methodology

DNA samples from 264 breast cancer patients and 440 controls were analyzed for TP53 polymorphisms using PCR-RFLP.

Potential Biases

Potential selection bias in control group selection.

Limitations

The study may have limited generalizability due to its specific population and sample size.

Participant Demographics

264 breast cancer patients (73 familial, 191 sporadic) and 440 healthy controls, with a median age of 42.29 years.

Statistical Information

P-Value

0.004; 0.026

Confidence Interval

95% CI 1.60–12.0; 95% CI 1.18–12.8

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2407-8-32

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