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Title: Genetic Variants Associated with Colorectal Adenoma Susceptibility
Author: 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
Keywords: Càncer colorectal
Genètica humana
Estudi de casos
Mutació (Biologia)
Colorectal cancer
Human genetics
Case studies
Mutation (Biology)
Issue Date: 14-Apr-2016
Publisher: Public Library of Science (PLoS)
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2016, vol. 11, num. 4, p. e0153084
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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