The Role of TP53 Genetic Mutation in Breast Cancer Pathogenesis

Abstract

Objective: To review the role of TP53 genetic mutations in breast cancer

Study Design: Case-control study
Place and Duration of Study: This study was conducted at the Marjan Teaching Hospital in Babylon, from 1st December 2023 to 30th June 2025.

Methods: This case-control was conducted at Marjan Teaching Hospital in Babylon and 200 subject were enrolled, 100 patients with breast cancer and 100 healthy undivided were recruited. Subjects were selected at after the
extraction of DNA the genotype of rs17878362 C/T and rs1042522 G/C was done using TaqMan-based Real-time PCR technique.

Results: The significant was noted in cancer antigen 15-3 level between the two group where it was 45.22±4.32U/ml in cases and 22.24±2.10U/ml in control (p=0.001).as for the polymorphism rs17878362. There was a statically significant difference in the frequency of CC 29% and CT 58% genotypes as well as in T alleles between cases and control (p=0.001), also similar result were obtained for the polymorphism rs1042522 .the frequencies of GG 38%; GC 62% genotypes and C alleles were statistically significantly more in the cancer group (P=0.001). The highest risk was found for TT genotype of rs17878362 which had the OR equal to 3.11. Discrepancies from Hardy- Weinberg Equilibrium were detected in the cases of breast cancer group in both genetic polymorphism (p=0.001).

Conclusion: The strong correlation between TP53 gene polymorphism rs17878362 and rs1042522 and high cancer incidence. These variants seem to affect the function of TP53 protein in terms of programmed cell death, causing genomic instability which is associated with developing of tumors. Thus, they might serve as important markers for cancer predicant and treatment.