Variantes do códon 72 do gene TP53 e seu impacto na radiossensibilidade de portadoras de câncer de mama

Abstract

Considering the central role of the TP53 gene in cell repair and the mechanism of action of radiotherapy leading to double-strand breaks in DNA, the hypothesis that polymorphisms of this gene may be associated with different risks of developing side effects from radiotherapy was studied. A literature review on the subject was conducted using the PubMed database. The literature review revealed that, among the described variants of the TP53 gene, the single nucleotide polymorphism at codon 72 receives particular attention from researchers, with 546 articles published from 1990 to August 2025 on its variants in the PubMed database. Some articles describe experimental findings confirming functional alterations in the protein depending on the variant of this codon. The TP53 rs1042522 polymorphism (G > C, Pro72Arg) has been nominally associated with the risk of late-onset radiation-induced cutaneous toxicity in a combined overall cohort (OR for allele C: 1.79, 95% CI: 1.06–3.02, p = 0.028) and in other articles. The evidence presented in the literature regarding the TP53 rs1042522 gene polymorphism leading to functional alterations in the protein reinforces the hypothesis that this polymorphism is associated with increased radiosensitivity, corroborating the need for continued research on this topic.