Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

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...

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Autores: Arnau Collell, Coral, Soares de Lima, Yasmin, Díaz Gay, Marcos, Muñoz, Jenifer, Carballal, Sabela, Bonjoch Gassol, Laia, Moreira Ruiz, Leticia, Lozano Salvatella, Juan José, Ocaña, Teresa, Cuatrecasas Freixas, Miriam, Díaz de Bustamante, Aranzazu, Castells Garangou, Antoni, Capellá, G. (Gabriel), Bujanda, Luis, Cubiella, Joaquín, Rodríguez Alcalde, Daniel, Balaguer Prunés, Francesc, Ruiz Ponte, Clara, Valle, Laura, Moreno Aguado, Víctor, Castellví Bel, Sergi
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/174090
Acceso en línea:https://hdl.handle.net/2445/174090
Access Level:acceso abierto
Palabra clave:Càncer colorectal
Genètica mèdica
Colorectal cancer
Medical genetics
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spelling Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibilityArnau Collell, CoralSoares de Lima, YasminDíaz Gay, MarcosMuñoz, JeniferCarballal, SabelaBonjoch Gassol, LaiaMoreira Ruiz, LeticiaLozano Salvatella, Juan JoséOcaña, TeresaCuatrecasas Freixas, MiriamDíaz de Bustamante, AranzazuCastells Garangou, AntoniCapellá, G. (Gabriel)Bujanda, LuisCubiella, JoaquínRodríguez Alcalde, DanielBalaguer Prunés, FrancescRuiz Ponte, ClaraValle, LauraMoreno Aguado, VíctorCastellví Bel, SergiCàncer colorectalGenètica mèdicaColorectal cancerMedical geneticsBackground: 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.BMJ2020info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/2445/174090Articles publicats en revistes (Ciències Clíniques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2019-106374Journal of Medical Genetics, 2020, vol. 57, issue. 10, p. 677-682https://doi.org/10.1136/jmedgenet-2019-106374info:eu-repo/grantAgreement/EC/H2020/713673cc by-nc (c) Arnau Collell, Coral et al., 2020http://creativecommons.org/licenses/by-nc/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1740902026-05-27T06:46:51Z
dc.title.none.fl_str_mv Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
title Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
spellingShingle Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Arnau Collell, Coral
Càncer colorectal
Genètica mèdica
Colorectal cancer
Medical genetics
title_short Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
title_full Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
title_fullStr Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
title_full_unstemmed Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
title_sort Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
dc.creator.none.fl_str_mv Arnau Collell, Coral
Soares de Lima, Yasmin
Díaz Gay, Marcos
Muñoz, Jenifer
Carballal, Sabela
Bonjoch Gassol, Laia
Moreira Ruiz, Leticia
Lozano Salvatella, Juan José
Ocaña, Teresa
Cuatrecasas Freixas, Miriam
Díaz de Bustamante, Aranzazu
Castells Garangou, Antoni
Capellá, G. (Gabriel)
Bujanda, Luis
Cubiella, Joaquín
Rodríguez Alcalde, Daniel
Balaguer Prunés, Francesc
Ruiz Ponte, Clara
Valle, Laura
Moreno Aguado, Víctor
Castellví Bel, Sergi
author Arnau Collell, Coral
author_facet Arnau Collell, Coral
Soares de Lima, Yasmin
Díaz Gay, Marcos
Muñoz, Jenifer
Carballal, Sabela
Bonjoch Gassol, Laia
Moreira Ruiz, Leticia
Lozano Salvatella, Juan José
Ocaña, Teresa
Cuatrecasas Freixas, Miriam
Díaz de Bustamante, Aranzazu
Castells Garangou, Antoni
Capellá, G. (Gabriel)
Bujanda, Luis
Cubiella, Joaquín
Rodríguez Alcalde, Daniel
Balaguer Prunés, Francesc
Ruiz Ponte, Clara
Valle, Laura
Moreno Aguado, Víctor
Castellví Bel, Sergi
author_role author
author2 Soares de Lima, Yasmin
Díaz Gay, Marcos
Muñoz, Jenifer
Carballal, Sabela
Bonjoch Gassol, Laia
Moreira Ruiz, Leticia
Lozano Salvatella, Juan José
Ocaña, Teresa
Cuatrecasas Freixas, Miriam
Díaz de Bustamante, Aranzazu
Castells Garangou, Antoni
Capellá, G. (Gabriel)
Bujanda, Luis
Cubiella, Joaquín
Rodríguez Alcalde, Daniel
Balaguer Prunés, Francesc
Ruiz Ponte, Clara
Valle, Laura
Moreno Aguado, Víctor
Castellví Bel, Sergi
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Càncer colorectal
Genètica mèdica
Colorectal cancer
Medical genetics
topic Càncer colorectal
Genètica mèdica
Colorectal cancer
Medical genetics
description 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.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/174090
url https://hdl.handle.net/2445/174090
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2019-106374
Journal of Medical Genetics, 2020, vol. 57, issue. 10, p. 677-682
https://doi.org/10.1136/jmedgenet-2019-106374
info:eu-repo/grantAgreement/EC/H2020/713673
dc.rights.none.fl_str_mv cc by-nc (c) Arnau Collell, Coral et al., 2020
http://creativecommons.org/licenses/by-nc/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc (c) Arnau Collell, Coral et al., 2020
http://creativecommons.org/licenses/by-nc/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMJ
publisher.none.fl_str_mv BMJ
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.300719

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