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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/174090
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
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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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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. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. _Journal of Medical Genetics_. 2020. Vol. 57, núm. 10, pàgs. 677-682. [consulta: 20 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/174090]