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| Home > Articles > Published articles > Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer |
| Home > Articles > Published articles > Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer |
(Fundación Instituto de Investigación Sanitaria de Santiago de Compostela) (Fundación Instituto de Investigación Sanitaria de Santiago de Compostela) (Fundación Instituto de Investigación Sanitaria de Santiago de Compostela) (Institut d'Investigació Biomèdica Sant Pau) (Universidad del País Vasco) (Institut Hospital del Mar d'Investigacions Mèdiques) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (Centro de Investigación Biomédica en Red de Cáncer) (Centro de Investigación Biomédica en Red de Enfermedades Raras) (Centro de Investigación Biomédica en Red de Cáncer)| Date: | 2021 |
| Abstract: | Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight. |
| Grants: | Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-653 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-21 Instituto de Salud Carlos III PI20/00226 Instituto de Salud Carlos III PI20/01113 Instituto de Salud Carlos III PI19/00179 Instituto de Salud Carlos III PI19/01316 Instituto de Salud Carlos III PI17/00878 Instituto de Salud Carlos III PI16/01057 Instituto de Salud Carlos III PI11/00681 Instituto de Salud Carlos III PI17/00509 Ministerio de Ciencia e Innovación SAF2016-80888-R |
| Rights: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Language: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Subject: | Cancer ; Genetics |
| Published in: | Scientific reports, Vol. 11 (may 2021) , ISSN 2045-2322 |
