A5098829024- Cancer-related gene regulation
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Genetic factors in colorectal cancer
Universitat de Barcelona
2024-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2024-2025
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas
2025
Fundació Clínic per a la Recerca Biomèdica
2024
Centro de Investigación Biomédica en Red
2024
Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) form hereditary CRC and it caused by germline defects in DNA-mismatch repair (MMR) pathway. It extreme importance for affected LS patients their relatives to identify causative alteration provide intensified surveillance those at risk allow early diagnosis prevention. Current approaches molecular typically involve screening MMR genes targeted gene-panel sequencing rearrangement screening. We report...
Abstract Background CDH1 and CTNNA1 remain as the main genes for hereditary gastric cancer. However, they only explain a small fraction of cancer cases with suspected inherited basis. In this study, we aimed to identify new early-onset patients (EOGC; < 50 years old). Methods After germline exome sequencing in 20 EOGC replication relevant findings by gene-panel an independent cohort 152 patients, CTNND1 stood out interesting candidate gene, since its protein product (p120ctn) directly...