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

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...

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Detalhes bibliográficos
Autor: Simões, Ana Rita Santos
Tipo de documento: tese
Data de publicação:2023
País:España
Recursos:Universidad de Santiago de Compostela (USC)
Repositório:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Idioma:inglês
OAI Identifier:oai:minerva.usc.gal:10347/31305
Acesso em linha:http://hdl.handle.net/10347/31305
Access Level:Acceso aberto
Palavra-chave:241007 Genética humana
320102 Genética clínica
Descrição
Resumo: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.