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Items: 1 to 50 of 77

1.

Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.

Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium, Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S.

J Genet Genomics. 2018 Jan 20;45(1):41-45. doi: 10.1016/j.jgg.2017.12.001. Epub 2017 Dec 20. No abstract available.

PMID:
29396139
2.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2018 Jan;118(2):e4. doi: 10.1038/bjc.2017.380. Epub 2017 Oct 12. No abstract available.

3.

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

Lorca V, Rueda D, Martín-Morales L, Poves C, Fernández-Aceñero MJ, Ruiz-Ponte C, Llovet P, Marrupe D, García-Barberán V, García-Paredes B, Pérez-Segura P, de la Hoya M, Díaz-Rubio E, Caldés T, Garre P.

PLoS One. 2017 Nov 2;12(11):e0187312. doi: 10.1371/journal.pone.0187312. eCollection 2017.

4.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2017 Sep 5;117(6):1215-1223. doi: 10.1038/bjc.2017.240. Epub 2017 Jul 25.

5.

Aggressiveness of the tall cell variant of papillary thyroid carcinoma is independent of the tumor size and patient age.

Villar-Taibo R, Peteiro-González D, Cabezas-Agrícola JM, Aliyev E, Barreiro-Morandeira F, Ruiz-Ponte C, Cameselle-Teijeiro JM.

Oncol Lett. 2017 May;13(5):3501-3507. doi: 10.3892/ol.2017.5948. Epub 2017 Mar 29.

6.

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Esteban-Jurado C, Giménez-Zaragoza D, Muñoz J, Franch-Expósito S, Álvarez-Barona M, Ocaña T, Cuatrecasas M, Carballal S, López-Cerón M, Marti-Solano M, Díaz-Gay M, van Wezel T, Castells A, Bujanda L, Balmaña J, Gonzalo V, Llort G, Ruiz-Ponte C, Cubiella J, Balaguer F, Aligué R, Castellví-Bel S.

Oncotarget. 2017 Apr 18;8(16):26732-26743. doi: 10.18632/oncotarget.15810.

7.

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY; Latin American Gastric Cancer Genetics Collaborative Group, Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona LG.

Gastroenterology. 2017 Apr;152(5):983-986.e6. doi: 10.1053/j.gastro.2016.12.010. Epub 2016 Dec 23.

8.

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.

Clin Transl Oncol. 2017 May;19(5):625-632. doi: 10.1007/s12094-016-1576-z. Epub 2016 Nov 25.

PMID:
27888432
9.

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X.

Carcinogenesis. 2016 Aug;37(8):751-8. doi: 10.1093/carcin/bgw064. Epub 2016 May 27.

10.

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.

Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11.

11.

Correspondence: SEMA4A variation and risk of colorectal cancer.

Kinnersley B, Chubb D, Dobbins SE, Frampton M, Buch S, Timofeeva MN, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, van Wezel T, Timothy Bishop D, Tomlinson I, Dunlop MG, Houlston RS.

Nat Commun. 2016 Mar 10;7:10611. doi: 10.1038/ncomms10611. No abstract available.

12.

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS.

Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286.

13.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.

Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.

PMID:
26116798
14.

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.

J Med Genet. 2015 Jul;52(7):498-502. doi: 10.1136/jmedgenet-2015-103076. Epub 2015 Apr 23.

PMID:
25908759
15.

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.

Mancikova V, Cruz R, Inglada-Pérez L, Fernández-Rozadilla C, Landa I, Cameselle-Teijeiro J, Celeiro C, Pastor S, Velázquez A, Marcos R, Andía V, Álvarez-Escolá C, Meoro A, Schiavi F, Opocher G, Quintela I, Ansede-Bermejo J, Ruiz-Ponte C, Santisteban P, Robledo M, Carracedo A.

Int J Cancer. 2015 Oct 15;137(8):1870-8. doi: 10.1002/ijc.29557. Epub 2015 Apr 22.

16.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S.

Genet Med. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24. Erratum in: Genet Med. 2014 Dec;16(12):988-9.

17.

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.

Real LM, Ruiz A, Gayán J, González-Pérez A, Sáez ME, Ramírez-Lorca R, Morón FJ, Velasco J, Marginet-Flinch R, Musulén E, Carrasco JM, Moreno-Rey C, Vázquez E, Chaves-Conde M, Moreno-Nogueira JA, Hidalgo-Pascual M, Ferrero-Herrero E, Castellví-Bel S, Castells A, Fernandez-Rozadilla C, Ruiz-Ponte C, Carracedo A, González B, Alonso S, Perucho M.

PLoS One. 2014 Jun 30;9(6):e101178. doi: 10.1371/journal.pone.0101178. eCollection 2014.

18.

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.

Kinnersley B, Buch S, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, Wezel Tv, Bishop DT, Tomlinson I, Dunlop MG, Houlston RS.

J Natl Cancer Inst. 2014 Apr 26;106(5). pii: dju086. doi: 10.1093/jnci/dju086. No abstract available.

19.

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.

Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A; EPICOLON Consortium, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S.

PLoS One. 2014 Apr 17;9(4):e95022. doi: 10.1371/journal.pone.0095022. eCollection 2014.

20.

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD).

J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15. Review.

PMID:
24737826
21.

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I.

Gut. 2015 Jan;64(1):111-20. doi: 10.1136/gutjnl-2013-306571. Epub 2014 Mar 19.

22.

Multiple sporadic colorectal cancers display a unique methylation phenotype.

Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

PLoS One. 2014 Mar 18;9(3):e91033. doi: 10.1371/journal.pone.0091033. eCollection 2014.

23.

New genes emerging for colorectal cancer predisposition.

Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Muñoz J, Balaguer F, Ocaña T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S.

World J Gastroenterol. 2014 Feb 28;20(8):1961-71. doi: 10.3748/wjg.v20.i8.1961. Review.

24.

Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study.

Pardini B, Verderio P, Pizzamiglio S, Nici C, Maiorana MV, Naccarati A, Vodickova L, Vymetalkova V, Veneroni S, Daidone MG, Ravagnani F, Bianchi T, Bujanda L, Carracedo A, Castells A, Ruiz-Ponte C, Morreau H, Howarth K, Jones A, Castellví-Bel S, Li L, Tomlinson I, Van Wezel T, Vodicka P, Radice P, Peterlongo P; EPICOLON Consortium.

PLoS One. 2014 Jan 21;9(1):e85538. doi: 10.1371/journal.pone.0085538. eCollection 2014. Erratum in: PLoS One. 2014;9(3):e91310.

25.

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.

Hum Genet. 2014 May;133(5):525-34. doi: 10.1007/s00439-013-1390-4. Epub 2013 Nov 12.

PMID:
24218287
26.

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.

PLoS One. 2013 Sep 6;8(9):e72091. doi: 10.1371/journal.pone.0072091. eCollection 2013.

27.

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.

Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28.

PMID:
23837913
28.

Genetic susceptibility variants associated with colorectal cancer prognosis.

Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S; Gastrointestinal Oncology Group of Spanish Gastroenterological Association.

Carcinogenesis. 2013 Oct;34(10):2286-91. doi: 10.1093/carcin/bgt179. Epub 2013 May 27.

PMID:
23712746
29.

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.

Gastroenterology. 2013 May;144(5):926-932.e1; quiz e13-4. doi: 10.1053/j.gastro.2013.01.044. Epub 2013 Jan 24.

PMID:
23354017
30.

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.

Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X; EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C.

BMC Genomics. 2013 Jan 26;14:55. doi: 10.1186/1471-2164-14-55.

31.

Vaginal tubulovillous adenoma: a clinicopathologic and molecular study with review of the literature.

Peña-Fernández M, Abdulkader-Nallib I, Novo-Domínguez A, Turrado-Sánchez EM, Brea-Fernández A, Sebio-Lago L, Ruíz-Ponte C, Cameselle-Teijeiro J.

Int J Gynecol Pathol. 2013 Jan;32(1):131-6. doi: 10.1097/PGP.0b013e31824fe2c8. Review.

PMID:
23202776
32.

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.

Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16. Erratum in: Carcinogenesis. 2013 Jul;34(7):1697.

PMID:
23161572
33.

BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.

Fernandez-Rozadilla C, Brea-Fernández A, Bessa X, Alvarez-Urturi C, Abulí A, Clofent J, Payá A; EPICOLON Consortium, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellví-Bel S, Ruiz-Ponte C.

Clin Genet. 2013 Jul;84(1):94-6. doi: 10.1111/cge.12023. Epub 2012 Oct 12. No abstract available.

PMID:
23057600
34.

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Koessler T, Pharoah P, Schafmayer C, Hampe J, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, von Holst S, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abulí A, Bessa X, Ruiz-Ponte C, Castellví-Bel S, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbell H, Tomlinson I, Houlston RS.

Gut. 2013 Jun;62(6):871-81. doi: 10.1136/gutjnl-2011-300537. Epub 2012 Apr 5.

35.

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.

Pharmacogenomics J. 2013 Jun;13(3):209-17. doi: 10.1038/tpj.2012.2. Epub 2012 Feb 7.

PMID:
22310351
36.

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.

Mutagenesis. 2012 Mar;27(2):153-9. doi: 10.1093/mutage/ger047.

PMID:
22294762
37.

Susceptibility genetic variants associated with early-onset colorectal cancer.

Giráldez MD, López-Dóriga A, Bujanda L, Abulí A, Bessa X, Fernández-Rozadilla C, Muñoz J, Cuatrecasas M, Jover R, Xicola RM, Llor X, Piqué JM, Carracedo A, Ruiz-Ponte C, Cosme A, Enríquez-Navascués JM, Moreno V, Andreu M, Castells A, Balaguer F, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Carcinogenesis. 2012 Mar;33(3):613-9. doi: 10.1093/carcin/bgs009. Epub 2012 Jan 10.

PMID:
22235025
38.

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.

Spain SL, Carvajal-Carmona LG, Howarth KM, Jones AM, Su Z, Cazier JB, Williams J, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Casey G, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Morreau H, van Wezel T, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IP.

Hum Mol Genet. 2012 Feb 15;21(4):934-46. doi: 10.1093/hmg/ddr523. Epub 2011 Nov 10.

39.

Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.

Kupfer SS, Anderson JR, Ludvik AE, Hooker S, Skol A, Kittles RA, Keku TO, Sandler RS, Ruiz-Ponte C, Castellvi-Bel S, Castells A, Carracedo A, Ellis NA.

PLoS One. 2011;6(10):e26123. doi: 10.1371/journal.pone.0026123. Epub 2011 Oct 27.

40.

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.

Gut. 2012 Jun;61(6):865-72. doi: 10.1136/gutjnl-2011-300041. Epub 2011 Aug 25.

PMID:
21868491
41.

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.

Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

BMC Cancer. 2011 Aug 5;11:339. doi: 10.1186/1471-2407-11-339.

42.

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella A, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Br J Cancer. 2011 Sep 6;105(6):870-5. doi: 10.1038/bjc.2011.296. Epub 2011 Aug 2.

43.

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG.

PLoS Genet. 2011 Jun;7(6):e1002105. doi: 10.1371/journal.pgen.1002105. Epub 2011 Jun 2.

44.

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.

BMC Med Genet. 2011 Jan 19;12:12. doi: 10.1186/1471-2350-12-12.

45.

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.

PLoS One. 2010 Sep 9;5(9). pii: e12673. doi: 10.1371/journal.pone.0012673.

46.

Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype.

Abulí A, Bessa X, González JR, Ruiz-Ponte C, Cáceres A, Muñoz J, Gonzalo V, Balaguer F, Fernández-Rozadilla C, González D, de Castro L, Clofent J, Bujanda L, Cubiella J, Reñé JM, Morillas JD, Lanas A, Rigau J, García AM, Latorre M, Saló J, Fernández Bañares F, Argüello L, Peña E, Vilella A, Riestra S, Carreño R, Paya A, Alenda C, Xicola RM, Doyle BJ, Jover R, Llor X, Carracedo A, Castells A, Castellví-Bel S, Andreu M; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Gastroenterology. 2010 Sep;139(3):788-96, 796.e1-6. doi: 10.1053/j.gastro.2010.05.072. Epub 2010 Jun 2.

PMID:
20638935
47.

Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk.

Crowther-Swanepoel D, Mansouri M, Enjuanes A, Vega A, Smedby KE, Ruiz-Ponte C, Jurlander J, Juliusson G, Montserrat E, Catovsky D, Campo E, Carracedo A, Rosenquist R, Houlston RS.

Br J Haematol. 2010 Aug;150(4):473-9. doi: 10.1111/j.1365-2141.2010.08270.x. Epub 2010 Jun 10.

PMID:
20553269
48.

Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study.

Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, 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.

Cancer Epidemiol Biomarkers Prev. 2010 Feb;19(2):619-23. doi: 10.1158/1055-9965.EPI-09-1175.

49.

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

Crowther-Swanepoel D, Broderick P, Di Bernardo MC, Dobbins SE, Torres M, Mansouri M, Ruiz-Ponte C, Enjuanes A, Rosenquist R, Carracedo A, Jurlander J, Campo E, Juliusson G, Montserrat E, Smedby KE, Dyer MJ, Matutes E, Dearden C, Sunter NJ, Hall AG, Mainou-Fowler T, Jackson GH, Summerfield G, Harris RJ, Pettitt AR, Allsup DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Parker A, Oscier D, Allan JM, Catovsky D, Houlston RS.

Nat Genet. 2010 Feb;42(2):132-6. doi: 10.1038/ng.510. Epub 2010 Jan 10.

50.

Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J, Ruíz-Ponte C, Carracedo A, Vega A.

Clin Genet. 2010 Feb;77(2):193-6. doi: 10.1111/j.1399-0004.2009.01309.x. Epub 2009 Nov 23. No abstract available.

PMID:
19930417

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