Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis

Gabriela A. Martinez-Nava,Laura Keren Urbina-Jara, Saul Lira-Albarran,Henry L. Gomez,Erika Ruiz-Garcia, Maria Tereza Nieto-Coronel,Rocio Ortiz-Lopez, Kenia Nadiezhda Martinez Villalba, Mariana Munoz-Sanchez,Dione Aguilar,Liliana Gomez-Flores-Ramos, Sara Aileen Cabrera-Nieto,Alejandro Mohar,Marlid Cruz-Ramos

DIAGNOSTICS(2024)

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摘要
(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer's development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.
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关键词
breast cancer,somatic mutation,exposome,target therapy,Latin America
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