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

  1. Simões, Ana Rita Santos
Supervised by:
  1. Ceres Fernandez Rozadilla Director
  2. Ángel Carracedo Álvarez Director

Defence university: Universidade de Santiago de Compostela

Fecha de defensa: 16 October 2023

Committee:
  1. Luis López Fernández Chair
  2. Francisco Barros Angueira Secretary
  3. Claire Palles Committee member

Type: Thesis

Abstract

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.