BACKGROUND AND OBJECTIVE: Breast cancer is the most common type of malignancy in women, and TP53 tumor-suppressor gene is one of the most commonly transformed genes in human cancers. Accurate assessment of TP53 gene mutations in cancer patients can play an important role in diagnosis, prognosis, or treatment. This study aimed to identify mutations of this gene in breast cancer patients.

METHODS: In this descriptive study, 102 tumor samples were obtained from female breast cancer patients from Azarbaijan, Iran. All the participants were referred to hospitals of Tabriz during 2007-2009, and their DNA was extracted by Proteinase K. TP53 gene mutations in exons 7 and 8 and intron 7 were investigated using polymerase chain reaction technique and direct sequencing.

FINDINGS: Seven (6.86%) cases of mutation and 14 (13.72%) cases of polymorphisms were identified. Mutations (CGG → CAG) at codon 248 (in two cases) and (CTG → CCG) at codon 257 in exon 7 and G>T mutation in the first nucleotide of intron 7 were observed. In exon 8, GTG>ATG mutation at codon 272, CCT>TCT mutation at codon 278, and three nucleotide deletion at codon 262 were identified.

CONCLUSION: The results of this study showed a different pattern of TP53 gene mutation in female breast cancer patients. Further studies could specify the role of TP53 mutations in the progression of breast cancer