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Page 1
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S. Esteban-Jurado C, et al. Among authors: brea fernandez a. Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165003 Free PMC article.
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.
Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L; EPICOLON Consortium; Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Hum Genet. 2014 May;133(5):525-34. doi: 10.1007/s00439-013-1390-4. Epub 2013 Nov 12. Hum Genet. 2014. PMID: 24218287
Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort.
Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Fernández-Rozadilla C, et al. PLoS One. 2010 Sep 9;5(9):e12673. doi: 10.1371/journal.pone.0012673. PLoS One. 2010. PMID: 20844743 Free PMC article.
Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience.
Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Castellví-Bel S, et al. Mutagenesis. 2012 Mar;27(2):153-9. doi: 10.1093/mutage/ger047. Mutagenesis. 2012. PMID: 22294762
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
Risk of cancer in cases of suspected lynch syndrome without germline mutation.
Rodríguez-Soler M, Pérez-Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé JM, de-Castro L, Marín-Gabriel JC, Lanas A, Cubiella J, Nicolás-Pérez D, Brea-Fernández A, Castellví-Bel S, Alenda C, Ruiz-Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Rodríguez-Soler M, et al. Gastroenterology. 2013 May;144(5):926-932.e1; quiz e13-4. doi: 10.1053/j.gastro.2013.01.044. Epub 2013 Jan 24. Gastroenterology. 2013. PMID: 23354017 Free 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. 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
High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
Brea-Fernández AJ, Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C. Brea-Fernández AJ, et al. Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23837913
Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Brea-Fernandez AJ, et al. Clin Transl Oncol. 2017 May;19(5):625-632. doi: 10.1007/s12094-016-1576-z. Epub 2016 Nov 25. Clin Transl Oncol. 2017. PMID: 27888432
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
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