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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido F, Pineda M, Aiza G, Valdés-Mas R, Navarro M, Puente DA, Pons T, González S, Iglesias S, Darder E, Piñol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lázaro C, Capellá G, Puente XS, Valle L. Bellido F, et al. Among authors: pinol v. Genet Med. 2016 Apr;18(4):325-32. doi: 10.1038/gim.2015.75. Epub 2015 Jul 2. Genet Med. 2016. PMID: 26133394 Free PMC article. Review.
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.
Quintana I, Mejías-Luque R, Terradas M, Navarro M, Piñol V, Mur P, Belhadj S, Grau E, Darder E, Solanes A, Brunet J, Capellá G, Gerhard M, Valle L. Quintana I, et al. Among authors: pinol v. Gut. 2018 Dec;67(12):2230-2232. doi: 10.1136/gutjnl-2017-315733. Epub 2018 Jan 12. Gut. 2018. PMID: 29330307 No abstract available.
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
Dámaso E, Canet-Hermida J, Vargas-Parra G, Velasco À, Marín F, Darder E, Del Valle J, Fernández A, Izquierdo À, Mateu G, Oliveras G, Escribano C, Piñol V, Uchima HI, Soto JL, Hitchins M, Farrés R, Lázaro C, Queralt B, Brunet J, Capellá G, Pineda M. Dámaso E, et al. Among authors: pinol v. Clin Epigenetics. 2019 Nov 28;11(1):171. doi: 10.1186/s13148-019-0762-6. Clin Epigenetics. 2019. PMID: 31779681 Free PMC article.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Sánchez A, Roos VH, Navarro M, Pineda M, Caballol B, Moreno L, Carballal S, Rodríguez-Alonso L, Ramon Y Cajal T, Llort G, Piñol V, López-Fernández A, Salces I, Picó MD, Rivas L, Bujanda L, Garzon M, Pizarro A, Martinez de Castro E, López-Arias MJ, Poves C, Garau C, Rodriguez-Alcalde D, Herraiz M, Alvarez-Urrutia C, Dacal A, Carrillo-Palau M, Cid L, Ponce M, Barreiro-Alonso E, Saperas E, Aguirre E, Romero C, Bastiaansen B, Gonzalez-Acosta M, Morales-Romero B, Ocaña T, Rivero-Sánchez L, Jung G, Bessa X, Cubiella J, Jover R, Rodríguez-Moranta F, Balmaña J, Brunet J, Castells A, Dekker E, Capella G, Serra-Burriel M, Moreira L, Pellise M, Balaguer F. Sánchez A, et al. Among authors: pinol v. Clin Gastroenterol Hepatol. 2022 Mar;20(3):611-621.e9. doi: 10.1016/j.cgh.2020.11.002. Epub 2020 Nov 3. Clin Gastroenterol Hepatol. 2022. PMID: 33157315
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R; EPICOLON Consortium; Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16. Carcinogenesis. 2013. PMID: 23161572
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.
Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S; Memebers of EPICOLON Consortium-Gastrointestinal Oncology Group of the Spanish Gastroenterological Association; Naccarati A, Pardini B, Vodickova L, Müller H, Talseth-Palmer BA, Stibbard G, Peterlongo P, Nici C, Veneroni S, Li L, Casey G, Tenesa A, Farrington SM, Tomlinson I, Moreno V, van Wezel T, Wijnen J, Dunlop M, Radice P, Scott RJ, Vodicka P, Ruiz-Ponte C, Brenner H, Buch S, Völzke H, Hampe J, Schafmayer C, Lindblom A. Picelli S, et al. PLoS One. 2013 Sep 6;8(9):e72091. doi: 10.1371/journal.pone.0072091. eCollection 2013. PLoS One. 2013. PMID: 24039736 Free PMC article.
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration.
Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A; EPICOLON Consortium. Fernandez-Rozadilla C, et al. Pharmacogenomics J. 2013 Jun;13(3):209-17. doi: 10.1038/tpj.2012.2. Epub 2012 Feb 7. Pharmacogenomics J. 2013. PMID: 22310351
62 results