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http://hdl.handle.net/2445/174090
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DC Field | Value | Language |
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dc.contributor.author | Arnau Collell, Coral | - |
dc.contributor.author | Soares de Lima, Yasmin | - |
dc.contributor.author | Díaz Gay, Marcos | - |
dc.contributor.author | Muñoz, Jenifer | - |
dc.contributor.author | Carballal, Sabela | - |
dc.contributor.author | Bonjoch Gassol, Laia | - |
dc.contributor.author | Moreira Ruiz, Leticia | - |
dc.contributor.author | Lozano Salvatella, Juan José | - |
dc.contributor.author | Ocaña, Teresa | - |
dc.contributor.author | Cuatrecasas Freixas, Miriam | - |
dc.contributor.author | Díaz de Bustamante, Aranzazu | - |
dc.contributor.author | Castells Garangou, Antoni | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.contributor.author | Bujanda, Luis | - |
dc.contributor.author | Cubiella, Joaquín | - |
dc.contributor.author | Rodríguez Alcalde, Daniel | - |
dc.contributor.author | Balaguer Prunés, Francesc | - |
dc.contributor.author | Ruiz Ponte, Clara | - |
dc.contributor.author | Valle, Laura | - |
dc.contributor.author | Moreno Aguado, Víctor | - |
dc.contributor.author | Castellví Bel, Sergi | - |
dc.date.accessioned | 2021-02-18T19:37:46Z | - |
dc.date.available | 2021-02-18T19:37:46Z | - |
dc.date.issued | 2020-03-13 | - |
dc.identifier.uri | http://hdl.handle.net/2445/174090 | - |
dc.description.abstract | Background: Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic predisposition is largely unknown. Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, however, their role in SPS genetic predisposition has not been yet explored. Objective: The aim of this study was to evaluate if common, low-penetrance genetic variants for CRC risk are also implicated in SPS genetic susceptibility. Methods: A case-control study was performed in 219 SPS patients and 548 asymptomatic controls analysing 65 CRC susceptibility variants. A risk prediction model for SPS predisposition was developed. Results: Statistically significant associations with SPS were found for seven genetic variants (rs4779584-GREM1, rs16892766-EIF3H, rs3217810-CCND2, rs992157-PNKD1/TMBIM1, rs704017-ZMIZ1, rs11196172-TCF7L2, rs6061231-LAMA5). The GREM1 risk allele was remarkably over-represented in SPS cases compared with controls (OR=1.573, 1.21-2.04, p value=0.0006). A fourfold increase in SPS risk was observed when comparing subjects within the highest decile of variants (≥65) with those in the first decile (≤50). Conclusions: Genetic variants for CRC risk are also involved in SPS susceptibility, being the most relevant ones rs4779584-GREM1, rs16892766-EIF3H and rs3217810-CCND2. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | BMJ | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2019-106374 | - |
dc.relation.ispartof | Journal of Medical Genetics, 2020, vol. 57, issue. 10, p. 677-682 | - |
dc.relation.uri | https://doi.org/10.1136/jmedgenet-2019-106374 | - |
dc.rights | cc by-nc (c) Arnau Collell, Coral et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es/ | * |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Càncer colorectal | - |
dc.subject.classification | Genètica mèdica | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Medical genetics | - |
dc.title | Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility | - |
dc.type | info:eu-repo/semantics/article | - |
dc.identifier.idgrec | 707459 | - |
dc.date.updated | 2021-02-18T14:24:23Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/713673/EU//INPhINIT | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32170005 | - |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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jmedgenet-2019-106374.full.pdf | 315.29 kB | Adobe PDF | View/Open |
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