Association of TP53 rs1042522 Polymorphism with Clinicopathological Features of Breast Cancer in Patients from a Tertiary Care Center in Pakistan
DOI:
https://doi.org/10.51985/Keywords:
Breast Neoplasms, TP53 Protein, Polymorphism, Genetic, Polymerase Chain Reaction, ReceptorAbstract
Objective: Breast cancer (BC) is the most common cancer among women worldwide and a leading cause of cancer-related mortality; Pakistan has one of the highest incidence rates in Asia, highlighting its significant public health burden. Mutations in a tumor suppressor gene TP53 have attracted much interest. Therefore, the aim of this study was to evaluate the association between clinicopathological characteristics of breast cancer patients and TP53 rs1042522 polymorphism.
Study Design & Setting: This cross-sectional study used non-probability consecutive sampling, including cases with adequate FFPE tissue and complete clinicopathological data. Collected variables comprised age at diagnosis, tumor laterality, histological type, tumor grade, pathological stage, and hormone receptor status, recorded according to standardized pathology reporting criteria. Genomic DNA was extracted from FFPE blocks using the Quick-DNA™ FFPE MiniPrep Kit, and DNA concentration and quality were assessed by spectrophotometry.
Methodology: Formalin-fixed paraffin-embedded (FFPE) tissue samples and clinical records of 48 histologically diagnosed breast carcinoma cases were analyzed. TP53 rs1042522 genotyping was performed using tetra-amplification refractory mutation system polymerase chain reaction (T-ARMS-PCR). Associations between genotypes and clinicopathological variables were analyzed using Chi-square.
Results: Total of 48 female breast cancer patients were included. Invasive ductal carcinoma was the predominant histological subtype. TP53 rs1042522 genotypes were variably distributed across tumor grades, stages, and hormone receptor status and the results showed no statistically significant association (p > 0.05).
Conclusion: Study concluded with statement that, TP53 rs1042522 polymorphism showed variable distribution without significant association with clinicopathological features, suggesting a descriptive rather than predictive role in this population
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