BACKGROUND: Breast cancer is the most common malignancy among females worldwide. Molecular analysis of p53 is likely to have value in diagnosis, prognosis, and treatment of breast cancer.
OBJECTIVE: To study the frequency and spectrum of p53 gene mutations in breast cancer patients residing Al Dakahliya district in the north of Egypt.
MATERIALS AND METHODS: Thirty patients with cancer breast as well as 10 controls were evaluated for p53 status by flow-cytometry, PCR-SSCP, and sequencing analysis.
RESULTS: P53 mutations were evident in five breast cancer patients (17%) including two missense mutations (A218 T and R279 G) in exon 6, 8; nonsense mutations (S297stop and Y159stop) in exon 8, 5, respectively, and frame shift mutation (M133 fs) in exon 5. p53 mutations were associated with invasive ductal carcinoma, large tumor size, and advanced disease stage
CONCLUSION: p53 gene mutations is potentially responsible for pathogenesis and clinical aggressiveness of breast cancer in our locality.
- Breast Neoplasms/genetics
- Codon, Nonsense
- DNA Mutational Analysis
- Frameshift Mutation
- Genes, p53
- Genetic Association Studies
- Middle Aged
- Mutation, Missense
- Neoplasm Invasiveness/genetics
- Neoplasm Staging
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Tumor Burden
- Tumor Suppressor Protein p53/metabolism