The TP53 somatic variant in Latin America: prevalence, functional implications, and clinical challenges in oncology
DOI:
https://doi.org/10.71112/06eh8813Keywords:
TP53, p.R175H, cancer, missense, DNAAbstract
Background: The TP53 gene plays a central role as a tumor suppressor, maintaining genomic integrity through cell cycle regulation, apoptosis, and DNA repair. Among its somatic mutations, the p.R175H variant is one of the most frequent and functionally disruptive hotspots, associated with loss of function, oncogenic gain of function, and resistance to therapy. This study aims to describe the frequency, geographic distribution, and cancer types associated with the TP53 p.R175H mutation in Latin American populations, as well as its functional impact and clinical relevance.
Methods: Through a systematic literature review and the functional analysis of a real case processed with a regional bioinformatic pipeline, we explore its implications as a prognostic biomarker and potential therapeutic target.
Results: The findings show a high prevalence of this variant across various cancer types in Latin America, particularly in breast, gastric, lung, and colon tumors, with notable heterogeneity among countries.
Conclusion: The TP53 p.R175H mutation is a priority biomarker in Latin American oncology, and its inclusion in molecular panels is key to advancing more effective and equitable precision medicine strategies.
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