Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

Mostra el registre complet Registre parcial de l'ítem

• dc.contributor.author Fernández-Rozadilla, C.
• 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 Roman, E.
• dc.contributor.author Gonzalez, D.
• dc.contributor.author Llor, Xavier
• dc.contributor.author Llor, Xavier
• dc.contributor.author Bujanda, Luis
• dc.contributor.author Bessa Caserras, 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 Capellá, Gabriel
• dc.contributor.author Carracedo, Ángel
• dc.contributor.author Valle, L.
• dc.contributor.author Ruiz Ponte, Clara
• dc.date.accessioned 2022-07-11T06:50:18Z
• dc.date.available 2022-07-11T06:50:18Z
• dc.date.issued 2021
• 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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, et al. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal càncer. Sci Rep. 2021 May 27; 11(1): 11135. DOI: 10.1038/s41598-021-90590-z
• dc.identifier.doi http://dx.doi.org/10.1038/s41598-021-90590-z
• dc.identifier.issn 2045-2322
• dc.identifier.uri http://hdl.handle.net/10230/53702
• dc.language.iso eng
• dc.publisher Nature Research
• dc.rights Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Còlon--Càncer
• dc.subject.keyword Genètica
• dc.subject.keyword Tumors
• dc.subject.keyword Metiltransferases
• dc.title Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion