Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer

• Autores: Ana Rita Santos Simões
• Directores de la Tesis: Ceres Fernandez Rozadilla (dir. tes.), Ángel Carracedo Álvarez (dir. tes.)
• Lectura: En la Universidade de Santiago de Compostela ( España ) en 2023
• Idioma: inglés
• Tribunal Calificador de la Tesis: Luis López Fernández (presid.), Francisco Barros Angueira (secret.), Claire Palles (voc.)
• Programa de doctorado: Programa de Doctorado en Medicina Molecular por la Universidad de Santiago de Compostela
• Materias:
  • Ciencias de la vida
    • Biología humana
      • Genética humana
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en: MINERVA
• Resumen

  • Colorectal cancer (CRC) is often linked to adverse drug reactions (ADRs), which can be severe or even fatal. To address this issue, pharmacogenetic studies have emerged to help personalise treatments based on molecular information. However, these have been limited by a lack of standardized data, the complexity of ADR phenotyping and the need for novel strategies and functional assays. Therefore, the aim of this project was to find and validate new CRC chemotoxicity biomarkers, using state-of-the-art approaches. We have conducted different omic analyses to identify low to highpenetrance variants and performed in vitro assays on a variant of interest. Our work successfully identified several candidate toxicity variants/genes that might be influencing the development of ADRs in CRC patients.