dc.contributor.author | Fernández Rozadilla, Ceres | |
dc.contributor.author | Álvarez Barona, M. | |
dc.contributor.author | Quintana, I. | |
dc.contributor.author | López Novo, A. | |
dc.contributor.author | Amigo, J. | |
dc.contributor.author | Cameselle Teijeiro, J. M. | |
dc.contributor.author | Román, E. | |
dc.contributor.author | González, Dolors | |
dc.contributor.author | Llor, Xavier | |
dc.contributor.author | Bujanda Fernández de Pierola, Luis ![ORCID](/themes/Mirage2//images/orcid_16x16.png) | |
dc.contributor.author | Bessa, Xavier | |
dc.contributor.author | Jover, Rodrigo | |
dc.contributor.author | Balaguer, Francesc | |
dc.contributor.author | Castells, Antoni | |
dc.contributor.author | Castellví Bel, Sergi | |
dc.contributor.author | Capella, Gabriel | |
dc.contributor.author | Carracedo, Angel | |
dc.contributor.author | Valle, Laura | |
dc.contributor.author | Ruiz Ponte, Clara | |
dc.date.accessioned | 2021-06-10T08:42:41Z | |
dc.date.available | 2021-06-10T08:42:41Z | |
dc.date.issued | 2021-05-27 | |
dc.identifier.citation | Scientific Reports 11(1) : (2021) // Article ID 11135 | es_ES |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10810/51820 | |
dc.description.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. | es_ES |
dc.description.sponsorship | This research was supported by Grants from Instituto de Salud Carlos III /FEDER: PI11/00681 (CRP), PI16/01057 (AC), PI17/00509 (CRP), PI17/00878 (SCB), PI19/00179 (CFR), PI19/01316 (JMC-T), PI20/01113 (SCB), PI20/00226 (CRP); CIBERONC-CB16/12/00234 (LV); and Fundación Olga Torres (LV and CFR); CERCA Program and Agència de Gestió d’Ajuts Universitaris i de Recerca (Generalitat de Catalunya, GRPRE 2017SGR21, GRC 2017SGR653). AL-N is supported by a Predoctoral Fellowship (GAIN, Xunta de Galicia, 2018 call) and IQ is supported by the FPI program of the Spanish Ministry of Science and Innovation—FEDER (SAF2016-80888-R). This article is based upon work from COST Action TransColonCan CA17118, supported by European Cooperation in Science and Technology (COST—www.cost.eu; www.transcoloncan.eu). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Springer | es_ES |
dc.relation | info:eu-repo/grantAgreement/MICINN/SAF2016-80888-R | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | colorectal cancer | es_ES |
dc.subject | penetrance changes | es_ES |
dc.subject | novel genetic variants | es_ES |
dc.subject | potential risk alleles | es_ES |
dc.title | Exome Sequencing of Early-Onset Patients Supports Genetic Heterogeneity in Colorectal Cancer | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0) | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.nature.com/articles/s41598-021-90590-z | es_ES |
dc.identifier.doi | 10.1038/s41598-021-90590-z | |
dc.departamentoes | Medicina | es_ES |
dc.departamentoeu | Medikuntza | es_ES |