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oai:recercat.cat:2445/1042892025-12-04T19:09:59Zcom_2072_1057col_2072_478858col_2072_478917col_2072_478921

urn:hdl:2445/104289 Genetic Variants Associated with Colorectal Adenoma Susceptibility Abulí, Anna Castells Garangou, Antoni Bujanda, Luis Lozano Salvatella, Juan José Bessa i Caserras, Xavier Hernández-Munain, Cristina Álvarez Urturi, Cristina Pellisé Urquiza, Maria Esteban-Jurado, Clara Hijona, Elizabeth Burón, Andrea Macià, Francesc Grau Cano, J. (Jaume) Guayta, Rafael (Guayta Escolies) Castellví Bel, Sergi Andreu, Montserrat Trilla García, Antoni PROCOLON Research Group Càncer colorectal Genètica humana Estudi de casos Mutació (Biologia) Colonoscòpia Colorectal cancer Human genetics Case studies Mutation (Biology) Colonoscopy Background Common low-penetrance genetic variants have been consistently associated with colorec- tal cancer risk. Aim To determine if these genetic variants are associated also with adenoma susceptibility and may improve selection of patients with increased risk for advanced adenomas and/or multi- plicity ( 3 adenomas). Methods We selected 1,326 patients with increased risk for advanced adenomas and/or multiplicity and 1,252 controls with normal colonoscopy from population-based colorectal cancer screening programs. We conducted a case-control association study analyzing 30 colorec- tal cancer susceptibility variants in order to investigate the contribution of these variants to the development of subsequent advanced neoplasia and/or multiplicity. Results We found that 14 of the analyzed genetic variants showed a statistically significant associa- tion with advanced adenomas and/or multiplicity: the probability of developing these lesions increased with the number of risk alleles reaching a 2.3-fold risk increment in individuals with 17 risk alleles. Conclusions Nearly half of the genetic variants associated with colorectal cancer risk are also related to advanced adenoma and/or multiplicity predisposition. Assessing the number of risk alleles in individuals within colorectal cancer screening programs may help to identify better a sub- group with increased risk for advanced neoplasia and/or multiplicity in the general population. 2016-11-30T09:34:27Z 2016-11-30T09:34:27Z 2016-04-14 2016-11-30T09:34:32Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0153084 PLoS One, 2016, vol. 11, num. 4, p. e0153084 https://doi.org/10.1371/journal.pone.0153084 cc-by (c) Abulí, Anna et al., 2016 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess Public Library of Science (PLoS) Articles publicats en revistes (Medicina)