Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Journal: Frontiers in oncology
Published Date: May 19, 2025

Abstract

BACKGROUND: Colorectal cancer (CRC) is recognized as a multifactorial disease, where both genetic and environmental factors play critical roles in its development and progression. The identification of pathogenic germline variants has proven to be a valuable tool for early diagnosis, the implementation of surveillance strategies, and the identification of individuals at increased cancer risk. Next-generation sequencing (NGS) has facilitated comprehensive multigene analysis in both hereditary and sporadic cases of CRC.

Authors

  • Juliana Rodriguez-Salamanca
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Mariana Angulo-Aguado
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Sarah Orjuela-Amarillo
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Catalina Duque
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Diana Carolina Sierra-Díaz
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Nora Contreras Bravo
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Carlos Figueroa
    Coloproctology Department, Hospital Universitario Mayor - Méderi - Universidad del Rosario, Bogotá, Colombia.
  • Carlos M Restrepo
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Andrés López-Cortés
    Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Mariscal Sucre Avenue, Quito, 170129, Ecuador. aalc84@gmail.com.
  • Rodrigo Cabrera
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Adrien Morel
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.
  • Dora Janeth Fonseca-Mendoza
    School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá, Colombia.

Keywords

No keywords available for this article.

External Resources

Popular Topics
Recent Journals