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Page 1
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Castillejo A, et al. Among authors: egoavil c. BMC Med Genet. 2011 Jan 19;12:12. doi: 10.1186/1471-2350-12-12. BMC Med Genet. 2011. PMID: 21247423 Free PMC article.
Clinically important molecular features of Peruvian colorectal tumours: high prevalence of DNA mismatch repair deficiency and low incidence of KRAS mutations.
Egoavil CM, Montenegro P, Soto JL, Casanova L, Sanchez-Lihon J, Castillejo MI, Martinez-Canto A, Perez-Carbonell L, Castillejo A, Guarinos C, Barbera VM, Jover R, Paya A, Alenda C. Egoavil CM, et al. Pathology. 2011 Apr;43(3):228-33. doi: 10.1097/PAT.0b013e3283437613. Pathology. 2011. PMID: 21436632
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.
Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Pérez-Carbonell L, et al. Among authors: egoavil cm. Gut. 2012 Jun;61(6):865-72. doi: 10.1136/gutjnl-2011-300041. Epub 2011 Aug 25. Gut. 2012. PMID: 21868491
TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer.
Martinez-Canto A, Castillejo A, Mata-Balaguer T, Castillejo MI, Hernandez-Illan E, Irles E, Barbera VM, Egoavil C, Guarinos C, Alenda C, Ochoa E, Lazaro R, Fajardo S, Lacueva J, Calpena R, Soto JL. Martinez-Canto A, et al. Among authors: egoavil c. PLoS One. 2012;7(1):e30812. doi: 10.1371/journal.pone.0030812. Epub 2012 Jan 23. PLoS One. 2012. PMID: 22292045 Free PMC article.
Clinical subtypes and molecular characteristics of serrated polyposis syndrome.
Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Pérez-Carbonell L, Egoavil C, Juárez M, Serradesanferm A, Bujanda L, Fernández-Bañares F, Cubiella J, de-Castro L, Guerra A, Aguirre E, Herreros-de-Tejada A, Bessa X, Herráiz M, Marín-Gabriel JC, Balmaña J, Cuatrecasas M, Balaguer F, Castells A, Soto JL, Alenda C, Payá A, Jover R. Guarinos C, et al. Among authors: egoavil c. Clin Gastroenterol Hepatol. 2013 Jun;11(6):705-11; quiz e46. doi: 10.1016/j.cgh.2012.12.045. Epub 2013 Jan 30. Clin Gastroenterol Hepatol. 2013. PMID: 23376323
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.
Guarinos C, Juárez M, Egoavil C, Rodríguez-Soler M, Pérez-Carbonell L, Salas R, Cubiella J, Rodríguez-Moranta F, de-Castro L, Bujanda L, Serradesanferm A, Nicolás-Pérez D, Herráiz M, Fernández-Bañares F, Herreros-de-Tejada A, Aguirre E, Balmaña J, Rincón ML, Pizarro A, Polo-Ortiz F, Castillejo A, Alenda C, Payá A, Soto JL, Jover R. Guarinos C, et al. Among authors: egoavil c. Clin Cancer Res. 2014 Mar 1;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490. Epub 2014 Jan 27. Clin Cancer Res. 2014. PMID: 24470512
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L, Hernández-Illán E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura Á, Juan MJ, Rodriguez-Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I. Valle L, et al. Among authors: egoavil c. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501277
IGFBP3 methylation is a novel diagnostic and predictive biomarker in colorectal cancer.
Perez-Carbonell L, Balaguer F, Toiyama Y, Egoavil C, Rojas E, Guarinos C, Andreu M, Llor X, Castells A, Jover R, Boland CR, Goel A. Perez-Carbonell L, et al. Among authors: egoavil c. PLoS One. 2014 Aug 15;9(8):e104285. doi: 10.1371/journal.pone.0104285. eCollection 2014. PLoS One. 2014. PMID: 25127039 Free PMC article.
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Castillejo A, et al. Among authors: egoavil c. J Med Genet. 2015 Jul;52(7):498-502. doi: 10.1136/jmedgenet-2015-103076. Epub 2015 Apr 23. J Med Genet. 2015. PMID: 25908759
30 results