Genomic Landscape of Breast Cancer: Study Across Diverse Ethnic Groups.

Asbiel Felipe Garibaldi-R��os, Luis E Figuera, Guillermo Mois��s Z����iga-Gonz��lez, Belinda Claudia G��mez-Meda, Ana Mar��a Puebla-P��rez, Alicia Rivera-Cameras, Mar��a Teresa Maga��a-Torres, Jos�� El��as Garc��a-Ort��z, Ingrid Patricia D��valos-Rodr��guez, M��nica Alejandra Rosales-Reynoso, Patricia Montserrat Garc��a-Verd��n, Irving Alejandro Carrillo-D��vila, Blanca Miriam Torres-Mendoza, Guadalupe ��valos-Navarro, Martha Patricia Gallegos-Arreola
Author Information
  1. Asbiel Felipe Garibaldi-R��os: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico. ORCID
  2. Luis E Figuera: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico. ORCID
  3. Guillermo Mois��s Z����iga-Gonz��lez: Divisi��n de Medicina Molecular, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Col. Independencia, Guadalajara 44340, Jalisco, Mexico. ORCID
  4. Belinda Claudia G��mez-Meda: Departamento de Biolog��a Molecular y Gen��mica, Instituto de Gen��tica Humana "Dr. Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico. ORCID
  5. Ana Mar��a Puebla-P��rez: Departamento de Farmacobiolog��a, Centro Universitario de Ciencias Exactas e Ingenier��as, Universidad de Guadalajara, Guadalajara 44430, Jalisco, Mexico.
  6. Alicia Rivera-Cameras: Departamento Ciclo de Vida, Gen��tica y Medicina Gen��mica, Unidad Acad��mica de Ciencias de la Salud, Universidad Aut��noma de Guadalajara, Guadalajara 45129, Jalisco, Mexico.
  7. Mar��a Teresa Maga��a-Torres: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico.
  8. Jos�� El��as Garc��a-Ort��z: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico. ORCID
  9. Ingrid Patricia D��valos-Rodr��guez: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico.
  10. M��nica Alejandra Rosales-Reynoso: Divisi��n de Medicina Molecular, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Col. Independencia, Guadalajara 44340, Jalisco, Mexico.
  11. Patricia Montserrat Garc��a-Verd��n: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico.
  12. Irving Alejandro Carrillo-D��vila: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico. ORCID
  13. Blanca Miriam Torres-Mendoza: Laboratorio de Inmunodeficiencias Humanas y Retrovirus, Divisi��n de Neurociencias, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44340, Jalisco, Mexico. ORCID
  14. Guadalupe ��valos-Navarro: Departamento de Ciencias M��dicas y de la Vida, Centro Universitario de la Ci��nega, Universidad de Guadalajara, Av. Universidad 1115, Lindavista, Ocotl��n 47820, Jalisco, Mexico. ORCID
  15. Martha Patricia Gallegos-Arreola: Divisi��n de Gen��tica, Centro de Investigaci��n Biom��dica de Occidente, Centro M��dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada #800, Guadalajara 44340, Jalisco, Mexico. ORCID

Abstract

: 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.

Keywords

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