P53 Gene: Mutation and Immunohistochemical Analysis in Patients with Invasive Ductal Carcinoma of Breast

TLDR: It is supported that mutation in p53 gene can be exploited as a prognostic marker for the early diagnosis of breast cancer, although more clinical and epidemiological data is required to establish this claim.

Abstract: The p53 tumor suppressor gene is the most commonly mutated gene in cancer. In breast cancer, the presence of p53 gene alterations has been associated with worse prognosis. This study was attempted to associate p53 gene mutations with its protein expression in North Eastern Indian population. We used single-stranded conformation polymorphism to screen samples for mutations in five conserved regions, exons 4, 5, 6, 7 and 8, of the p53 gene. Mutations were confirmed by direct DNA sequencing. Samples were also analyzed for expression of p53 immunohistochemically. We found two critical mutations in the exon 4. A well known missense mutation at codon 72 (pro to arg) with a frequency of 47% was found which was significantly correlated with the immunohistochemical analysis of p53 protein in such patients. A novel nonsense mutation at codon 107 which leads to stop codon was also found. Although the occurrence of this mutation was very less, we did not find expression of p53 protein immunohistochemicaly. We support that mutation in p53 gene can be exploited as a prognostic marker for the early diagnosis of breast cancer, although more clinical and epidemiological data is required to establish this claim.