Garibaldi-Ríos Asbiel Felipe, Figuera Luis E, Zúñiga-González Guillermo Moisés, Gómez-Meda Belinda Claudia, Puebla-Pérez Ana María, Rivera-Cameras Alicia, Magaña-Torres María Teresa, García-Ortíz José Elías, Dávalos-Rodríguez Ingrid Patricia, Rosales-Reynoso Mónica Alejandra, García-Verdín Patricia Montserrat, Carrillo-Dávila Irving Alejandro, Torres-Mendoza Blanca Miriam, Ávalos-Navarro Guadalupe, Gallegos-Arreola Martha Patricia
División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico.
Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Diseases. 2025 Mar 17;13(3):86. doi: 10.3390/diseases13030086.
: Breast cancer (BC) is the most common cancer among women worldwide, with incidence and mortality rates varying across ethnic groups due to sociodemographic, clinicopathological, and genomic differences. This study aimed to characterize the genomic landscape of BC in diverse ethnic groups using computational tools to explore these variations. : cBioPortal was used to analyze genomic, clinicopathological, and sociodemographic data from 1084 BC samples. Mutated genes were classified based on GeneCards platform data. Enrichment analysis was performed with CancerHallmarks, and genes not found were compared with MSigDB's Hallmark Gene Sets. Genes absent from both were further analyzed using NDEx through Cytoscape.org to explore their role in cancer. : Significant differences ( < 0.05) were observed in sex, tumor subtypes, genetic ancestry, median of the fraction of the altered genome, mutation count, and mutation frequencies of genes across ethnic groups. We identified the most frequently mutated genes. Some of these genes were found to be associated with classic cancer hallmarks, such as replicative immortality, sustained proliferative signaling, and the evasion of growth suppressors. However, the exact role of some of these genes in cancer remains unclear, highlighting the need for further research to better understand their involvement in tumor biology. : This study identified significant clinicopathological and genomic variations in BC across ethnic groups. While key genes associated with cancer hallmarks were found, the incomplete characterization of some highlights the need for further research, especially focusing on ethnic groups, to understand their role in tumor biology and improve personalized treatments.
乳腺癌(BC)是全球女性中最常见的癌症,由于社会人口统计学、临床病理和基因组差异,不同种族群体的发病率和死亡率各不相同。本研究旨在使用计算工具探索这些差异,以描绘不同种族群体中BC的基因组特征。使用cBioPortal分析来自1084份BC样本的基因组、临床病理和社会人口统计学数据。根据基因卡平台数据对突变基因进行分类。使用癌症特征进行富集分析,并将未找到的基因与MSigDB的特征基因集进行比较。两者均不存在的基因通过Cytoscape.org使用NDEx进一步分析,以探索它们在癌症中的作用。在不同种族群体的性别、肿瘤亚型、遗传血统、基因组改变分数中位数、突变计数和基因突变频率方面观察到显著差异(<0.05)。我们确定了最常突变的基因。其中一些基因被发现与经典癌症特征相关,如复制永生、持续增殖信号和逃避生长抑制。然而,这些基因中一些在癌症中的确切作用仍不清楚,这突出表明需要进一步研究以更好地了解它们在肿瘤生物学中的参与情况。本研究确定了不同种族群体中BC存在显著的临床病理和基因组差异。虽然发现了与癌症特征相关的关键基因,但一些基因的不完全特征突出了进一步研究的必要性,特别是关注不同种族群体,以了解它们在肿瘤生物学中的作用并改善个性化治疗。