Abstract

Background: The TP53 gene is the most important tumor suppressor gene in humans. The aim of our study was to determine the genotype frequency of three common TP53 polymorphisms (codon 72 BstUI and intron 6 MspI, as well as the intron 3) in a group of Iranian women with and without breast cancer. Methods: Paraffin-embedded specimens of 65 malignant breast cancer cases and 65 cases with benign breast lesions were investigated for the presence of three common TP53 polymorphisms by polymerase chain reaction. Samples were genotyped by polymerase chain reaction followed by variant specific restriction enzyme digestion. Results: In our study, age grouping as >50 and ≤50 showed that the highest number of cancerous and non-cancerous patients was in the age group under 50; according to statistical tests, the difference was significant and recessive alleles of all three hot spots of TP53 had the highest frequency in the cancerous group. The majority of the cases with recessive alleles of all three hot spots of TP53 were in the age group ≤ 50. The difference between cancerous and noncancerous groups was statistically significant. Conclusions: Our results indicate that recessive alleles in three hot spots of TP53 gene might play a role in the breast cancer development, especially in women younger than 50 years.

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