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

  1. Simões, Ana Rita Santos
unter der Leitung von:
  1. Ceres Fernandez Rozadilla Doktorvater/Doktormutter
  2. Ángel Carracedo Álvarez Doktorvater

Universität der Verteidigung: Universidade de Santiago de Compostela

Fecha de defensa: 16 von Oktober von 2023

Gericht:
  1. Luis López Fernández Präsident/in
  2. Francisco Barros Angueira Sekretär/in
  3. Claire Palles Vocal
Fachbereiche:
  1. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría

Art: Dissertation

Zusammenfassung

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.