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Items: 1 to 20 of 66

1.

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.

2.

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
3.

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
4.

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.

PMID:
25855579
5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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
15.

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.

16.

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
17.

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.

18.

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
19.

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.

20.

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
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