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Title: Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Author: Arnau Collell, Coral
Soares de Lima, Yasmin
Díaz Gay, Marcos
Muñoz, Jenifer
Carballal, Sabela
Bonjoch Gassol, Laia
Moreira, 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
Keywords: Càncer colorectal
Genètica mèdica
Colorectal cancer
Medical genetics
Issue Date: 13-Mar-2020
Publisher: BMJ
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.
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It is part of: Journal of Medical Genetics, 2020, vol. 57, issue. 10, p. 677-682
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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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