Publications

Publications from participants in COST Action BM1206 (2013-2015)

  • Mur P, Aiza G, Sanz-Pamplona R, González S, Navarro M, Moreno V, Capellá G, Valle L. AMER1 Is a Frequently Mutated Gene in Colorectal Cancer-Letter. Clin Cancer Res. 2015 Nov 1;21(21):4985. [+]
  • Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families. Clin Genet. 2014 Mar;85(3):260-6. [+]
  • Murgic J, Kirac I, Soldic Z, Tomas D, Zovak M, Bolanca A, Plawski A, Banasiewicz Y, Kusic Z. Familial adenomatous polyposis in three generations of a single family: a case study. Case Rep Oncol. 2014 May 28;7(2):349-56. [+]
  • Muto Y, Maeda T, Suzuki K, Kato T, Watanabe F, Kamiyama H, Saito M, Koizumi K, Miyaki Y, Konishi F, Alonso S, Perucho M, Rikiyama T. DNA methylation alterations of AXIN2 in serrated adenomas and colon carcinomas with microsatellite instability. BMC Cancer. 2014 Jun 25;14:466. [+]
  • Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Möslein G; Mallorca Group (http://mallorca-group.eu). Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2015 Dec 9. pii: gutjnl-2015-309675. doi:10.1136/gutjnl-2015-309675. [Epub ahead of print] [+]
  • Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C. Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology. 2013 Jun;144(7):1402-9. [+]
  • Nikolic A, Cacev T, Aralica G, Popovic Hadzija M, Kapitanovic S, Radojkovic D. Mononucleotide repeats in the SMAD4 gene promoter in colon carcinoma tissue of Croatian patients. Exp Mol Pathol. 2015 Apr;98(2):133-5. [+]
  • Ongen H, Andersen CL, Bramsen JB, Oster B, Rasmussen MH, Ferreira PG, Sandoval J, Vidal E, Whiffin N, Planchon A, Padioleau I, Bielser D, Romano L, Tomlinson I, Houlston RS, Esteller M, Orntoft TF, Dermitzakis ET. Putative cis-regulatory drivers in colorectal cancer. Nature. 2014 Aug 7;512(7512):87-90. [+]
  • Pardini B, Bermejo JL, Naccarati A, Di Gaetano C, Rosa F, Legrand C, Novotny J, Vodicka P, Kumar R. Inherited variability in a master regulator polymorphism (rs4846126) associates with survival in 5-FU treated colorectal cancer patients. Mutat Res. 2014 Aug-Sep;766-767:7-13. [+]
  • Pardini B, Rosa F, Barone E, Di Gaetano C, Slyskova J, Novotny J, Levy M, Garritano S, Vodickova L, Buchler T, Gemignani F, Landi S, Vodicka P, Naccarati A. Variation within 3'-UTRs of base excision repair genes and response to therapy in colorectal cancer patients: A potential modulation of microRNAs binding. Clin Cancer Res. 2013 Nov 1;19(21):6044-56. [+]
  • Pardini B, Rosa F, Naccarati A, Vymetalkova V, Ye Y, Wu X, di Gaetano C, Buchler T, Novotny J, Matullo G, Vodicka P. Polymorphisms in microRNA genes as predictors of clinical outcomes in colorectal cancer patients. Carcinogenesis. 2015 Jan;36(1):82-6. [+]
  • Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D. Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. Clin Genet. 2015 Jun;87(6):543-8. [+]
  • Pinheiro M, Pinto C, Peixoto A, Veiga I, Lopes P, Henrique R, Baldaia H, Carneiro F, Seruca R, Tomlinson I, Kovac M, Heinimann K, Teixeira MR. Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation. Br J Cancer. 2015 Aug 11;113(4):686-92. [+]
  • Pinto C, Pinheiro M, Peixoto A, Santos C, Veiga I, Rocha P, Pinto P, Lopes P, Baptista M, Henrique R, Teixeira MR. Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal. J Hum Genet. 2015 Oct 8. doi: 10.1038/jhg.2015.124. [Epub ahead of print] [+]
  • Rau TT, Agaimy A, Gehoff A, Geppert C, Jung K, Knobloch K, Langner C, Lugli A, Groenbus-Lurkin I, Nagtegaal ID, Rüschoff J, Saegert X, Sarbia M, Schneider-Stock R, Vieth M, Zwarthoff EC, Hartmann A. Defined morphological criteria allow reliable diagnosis of colorectal serrated polyps and predict polyp genetics. Virchows Arch. 2014 Jun;464(6):663-72. [+]
  • Reimers MS, Bastiaannet E, Langley RE, van Eijk R, van Vlierberghe RL, Lemmens VE, van Herk-Sukel MP, van Wezel T, Fodde R, Kuppen PJ, Morreau H, van de Velde CJ, Liefers GJ. Expression of HLA class I antigen, aspirin use, and survival after a diagnosis of colon cancer. JAMA Intern Med. 2014 May;174(5):732-9. [+]
  • Roepman P, Schlicker A, Tabernero J, Majewski I, Tian S, Moreno V, Snel MH, Chresta CM, Rosenberg R, Nitsche U, Macarulla T, Capella G, Salazar R, Orphanides G, Wessels LF, Bernards R, Simon IM. Colorectal cancer intrinsic subtypes predict chemotherapy benefit, deficient mismatch repair and epithelial-to-mesenchymal transition. Int J Cancer. 2014 Feb 1;134(3):552-62. [+]
  • Romero A, Garre P, Valentin O, Sanz J, Pérez-Segura P, Llovet P, Díaz-Rubio E, de la Hoya M, Caldés T. Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families. PLoS One. 2013 Sep 11;8(9):e72195. [+]
  • Rosmarin D, Palles C, Church D, Domingo E, Jones A, Johnstone E, Wang H, Love S, Julier P, Scudder C, Nicholson G, Gonzalez-Neira A, Martin M, Sargent D, Green E, McLeod H, Zanger UM, Schwab M, Braun M, Seymour M, Thompson L, Lacas B, Boige V, Ribelles N, Afzal S, Enghusen H, Jensen SA, Etienne-Grimaldi MC, Milano G, Wadelius M, Glimelius B, Garmo H, Gusella M, Lecomte T, Laurent-Puig P, Martinez-Balibrea E, Sharma R, Garcia-Foncillas J, Kleibl Z, Morel A, Pignon JP, Midgley R, Kerr D, Tomlinson I. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. J Clin Oncol. 2014 Apr 1;32(10):1031-9. [+]
  • 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. 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. Gut. 2015 Jan;64(1):111-20. [+]
  • Rudolph A, Shi H, Försti A, Hoffmeister M, Sainz J, Jansen L, Hemminki K, Brenner H, Chang-Claude J. Repeat polymorphisms in ESR2 and AR and colorectal cancer risk and prognosis: results from a German population-based case-control study. BMC Cancer. 2014 Nov 7;14:817. [+]
  • Sainz J, Frank B, da Silva Filho MI, Hoffmeister M, Rudolph A, Butterbach K, Chang-Claude J, Brenner H, Hemminki K, Försti A. GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2014 Jun;23(6):1125-8. [+]
  • Sanz-Pamplona R, Berenguer A, Cordero D, Molleví DG, Crous-Bou M, Sole X, Paré-Brunet L, Guino E, Salazar R, Santos C, de Oca J, Sanjuan X, Rodriguez-Moranta F, Moreno V. Aberrant gene expression in mucosa adjacent to tumor reveals a molecular crosstalk in colon cancer. Mol Cancer. 2014 Mar 5;13:46. [+]
  • Sanz-Pamplona R, Lopez-Doriga A, Paré-Brunet L, Lázaro K, Bellido F, Alonso MH, Aussó S, Guinó E, Beltrán S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Morón-Duran FD, Soriano A, Salazar R, Valle L, Moreno V. Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer. Clin Cancer Res. 2015 Oct 15;21(20):4709-18. [+]
  • Sarasqueta AF, Forte G, Corver WE, de Miranda NF, Ruano D, van Eijk R, Oosting J, Tollenaar RA, van Wezel T, Morreau H. Integral analysis of p53 and its value as prognostic factor in sporadic colon cancer. BMC Cancer. 2013 Jun 5;13:277. [+]
  • Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M, Rennert HS, Shi W, Thomas DC, Van Den Berg DJ, Hutter CM, Aragaki AK, Butterbach K, Caan BJ, Carlson CS, Chanock SJ, Curtis KR, Fuchs CS, Gala M, Giocannucci EL, Gogarten SM, Hayes RB, Henderson B, Hunter DJ, Jackson RD, Kolonel LN, Kooperberg C, Kury S, LaCroix A, Laurie CC, Laurie CA, Lemire M, Levine D, Ma J, Makar KW, Qu C, Taverna D, Ulrich CM, Wu K, Kono S, West DW, Berndt SI, Bezieau S, Brenner H, Campbell PT, Chan AT, Chang-Claude J, Coetzee GA, Conti DV, Duggan D, Figueiredo JC, Fortini BK, Gallinger SJ, Gauderman WJ, Giles G, Green R, Haile R, Harrison TA, Hoffmeister M, Hopper JL, Hudson TJ, Jacobs E, Iwasaki M, Jee SH, Jenkins M, Jia WH, Joshi A, Li L, Lindor NM, Matsuo K, Moreno V, Mukherjee B, Newcomb PA, Potter JD, Raskin L, Rennert G, Rosse S, Severi G, Schoen RE, Seminara D, Shu XO, Slattery ML, Tsugane S, White E, Xiang YB, Zanke BW, Zheng W, Le Marchand L, Casey G, Gruber SB, Peters U. Genome-wide association study of colorectal cancer identifies six new susceptibility loci. Nat Commun. 2015 Jul 7;6:7138. [+]
  • Seguí N, Guinó E, Pineda M, Navarro M, Bellido F, Lázaro C, Blanco I, Moreno V, Capellá G, Valle L. Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer. PLoS One. 2014 Feb 3;9(2):e86063. [+]
  • Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MÁ, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. Gastroenterology. 2015 Sep;149(3):563-6. [+]
  • Seguí N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos O, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G, Valle L. Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. Gut. 2015 Feb;64(2):355-6. [+]
  • Seguí N, Pineda M, Navarro M, Lázaro C, Brunet J, Infante M, Durán M, Soto JL, Blanco I, Capellá G, Valle L. GALNT12 is not a major contributor of familial colorectal cancer type X. Hum Mutat. 2014 Jan;35(1):50-2. [+]
  • Sirnes S, Lind GE, Bruun J, Fykerud TA, Mesnil M, Lothe RA, Rivedal E, Kolberg M, Leithe E. Connexins in colorectal cancer pathogenesis. Int J Cancer. 2015 Jul 1;137(1):1-11. [+]
  • Slyskova J, Cordero F, Pardini B, Korenkova V, Vymetalkova V, Bielik L, Vodickova L, Pitule P, Liska V, Matejka VM, Levy M, Buchler T, Kubista M, Naccarati A, Vodicka P. Post-treatment recovery of suboptimal DNA repair capacity and gene expression levels in colorectal cancer patients. Mol Carcinog. 2015 Sep;54(9):769-78. [+]
  • Smith CG, Fisher D, Harris R, Maughan TS, Phipps AI, Richman S, Seymour M, Tomlinson I, Rosmarin D, Kerr D, Chan AT, Peters U, Newcomb PA, Idziaszczyk S, West H, Meade A, Kaplan R, Cheadle JP. Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival. Clin Cancer Res. 2015 Aug 1;21(15):3453-61. [+]
  • Solé X, Crous-Bou M, Cordero D, Olivares D, Guinó E, Sanz-Pamplona R, Rodriguez-Moranta F, Sanjuan X, de Oca J, Salazar R, Moreno V. Discovery and validation of new potential biomarkers for early detection of colon cancer. PLoS One. 2014 Sep 12;9(9):e106748. [+]
  • Sur I, Tuupanen S, Whitington T, Aaltonen LA, Taipale J. Lessons from functional analysis of genome-wide association studies. Cancer Res. 2013 Jul 15;73(14):4180-4. [+]
  • Svec J, Schwarzová L, Janošíková B, Stekrová J, Mandys V, Kment M, Vodicka P. Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. Int J Clin Exp Pathol. 2014 Jul 15;7(8):5196-202. [+]
  • Svoboda M, Slyskova J, Schneiderova M, Makovicky P, Bielik L, Levy M, Lipska L, Hemmelova B, Kala Z, Protivankova M, Vycital O, Liska V, Schwarzova L, Vodickova L, Vodicka P. HOTAIR long non-coding RNA is a negative prognostic factor not only in primary tumors, but also in the blood of colorectal càncer patients. Carcinogenesis. 2014 Jul;35(7):1510-5. [+]
  • Talseth-Palmer BA, Wijnen JT, Andreassen EK, Barker D, Jagmohan-Changur S, Tops CM, Meldrum C; Dutch Cancer Genetics Group, Spigelman A, Hes FJ, Van Wezel T, Vasen HF, Scott RJ. The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients. Hered Cancer Clin Pract. 2013 Dec 29;11(1):20. [+]
  • Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Järvinen H, Mecklin JP, Böhm J, Kilpivaara O, Pitkänen E, Palin K, Vahteristo P, Tuupanen S, Aaltonen LA. Systematic search for rare variants in Finnish early-onset colorectal cancer patients. Cancer Genet. 2015 Jan-Feb;208(1-2):35-40. [+]
  • Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P, Aaltonen LA. Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. Scand J Gastroenterol. 2013 Jun;48(6):672-8. [+]
  • ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol. 2015 Feb 1;33(4):319-25. [+]
  • Theodoratou E, Farrington SM, Tenesa A, McNeill G, Cetnarskyj R, Korakakis E, Din FV, Porteous ME, Dunlop MG, Campbell H. Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population. Eur J Cancer Prev. 2014 Jan;23(1):8-17. [+]
  • Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet. 2014 Feb;46(2):107-15. [+]
  • Tomlinson I. The Mendelian colorectal cancer syndromes. Ann Clin Biochem. 2015 Nov;52(Pt 6):690-2. [+]
  • 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. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. [+]
  • Valle L. Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol. 2014 Aug 7;20(29):9828-49. [+]
  • van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Hum Mutat. 2015 Jul;36(7):712-9. [+]
  • Vasen HF, Tomlinson I, Castells A. Clinical management of hereditary colorectal cancer syndromes. Nat Rev Gastroenterol Hepatol. 2015 Feb;12(2):88-97. [+]
  • Vedeld HM, Andresen K, Eilertsen IA, Nesbakken A, Seruca R, Gladhaug IP, Thiis-Evensen E, Rognum TO, Boberg KM, Lind GE. The novel colorectal càncer biomarkers CDO1, ZSCAN18 and ZNF331 are frequently methylated across gastrointestinal cancers. Int J Cancer. 2015 Feb 15;136(4):844-53. [+]
  • Vedeld HM, Skotheim RI, Lothe RA, Lind GE. The recently suggested intestinal cancer stem cell marker DCLK1 is an epigenetic biomarker for colorectal cancer. Epigenetics. 2014 Mar;9(3):346-50. [+]
  • Vodicka P, Caja F, Vymetalkova V, Prochazka P, Vodickova L, Schwarzova L, Slyskova J, Kumar R, Schneiderova M. A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient. Oncol Lett. 2015 Jan;9(1):183-186. [+]
  • Voorneveld PW, Kodach LL, Jacobs RJ, Liv N, Zonnevylle AC, Hoogenboom JP, Biemond I, Verspaget HW, Hommes DW, de Rooij K, van Noesel CJ, Morreau H, van Wezel T, Offerhaus GJ, van den Brink GR, Peppelenbosch MP, Ten Dijke P, Hardwick JC. Loss of SMAD4 alters BMP signaling to promote colorectal cancer cell metastasis via activation of Rho and ROCK. Gastroenterology. 2014 Jul;147(1):196-208. [+]
  • Vymetalkova V, Pardini B, Rosa F, Di Gaetano C, Novotny J, Levy M, Buchler T, Slyskova J, Vodickova L, Naccarati A, Vodicka P. Variations in mismatch repair genes and colorectal cancer risk and clinical outcome. Mutagenesis. 2014 Jul;29(4):259-65. [+]
  • Vymetalkova VP, Slyskova J, Korenkova V, Bielik L, Langerova L, Prochazka P, Rejhova A, Schwarzova L, Pardini B, Naccarati A, Vodicka P. Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients. BMC Med Genet. 2014 Jan 31;15:17. [+]
  • Wang H, Burnett T, Kono S, Haiman CA, Iwasaki M, Wilkens LR, Loo LW, Van Den Berg D, Kolonel LN, Henderson BE, Keku TO, Sandler RS, Signorello LB, Blot WJ, Newcomb PA, Pande M, Amos CI, West DW, Bézieau S, Berndt SI, Zanke BW, Hsu L; Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Lindor NM, Haile RW, Hopper JL, Jenkins MA, Gallinger S, Casey G; Colon Cancer Family Registry (CCFR), Stenzel SL, Schumacher FR, Peters U, Gruber SB; Colorectal Transdisciplinary Study (CORECT), Tsugane S, Stram DO, Le Marchand L. Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A. Nat Commun. 2014 Aug 8;5:4613. [+]
  • Wang J, Carvajal-Carmona LG, Chu JH, Zauber AG; APC Trial Collaborators, Kubo M, Matsuda K, Dunlop M, Houlston RS, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Ratain MJ, Nakamura Y, Weiss ST, Tomlinson I, Bertagnolli MM. Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clin Cancer Res.2013 Dec 1;19(23):6430-7. [+]
  • Weber AN, Försti A. Toll-like receptor genetic variants and colorectal cancer. Oncoimmunology. 2014 Jan 1;3(1):e27763. [+]
  • Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet. 2015 Jun;47(6):668-71. [+]
  • Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. J Pathol. 2015 Jun;236(2):155-64. [+]
  • Whiffin N, Dobbins SE, Hosking FJ, Palles C, Tenesa A, Wang Y, Farrington SM, Jones AM, Broderick P, Campbell H, Newcomb PA, Casey G, Conti DV, Schumacher F, Gallinger S, Lindor NM, Hopper J, Jenkins M, Dunlop MG, Tomlinson IP, Houlston RS. Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer. Hum Mol Genet. 2013 Dec 15;22(24):5075-82. [+]
  • Whiffin N, Houlston RS. Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery. Genes (Basel). 2014 Mar 27;5(2):270-84. [+]
  • Whissell G, Montagni E, Martinelli P, Hernando-Momblona X, Sevillano M, Jung P, Cortina C, Calon A, Abuli A, Castells A, Castellvi-Bel S, Nacht AS, Sancho E, Stephan-Otto Attolini C, Vicent GP, Real FX, Batlle E. The transcription factor GATA6 enables self-renewal of colon adenoma stem cells by repressing BMP gene expression. Nat Cell Biol. 2014 Jul;16(7):695-707. [+]
  • Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B. Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Carcinogenesis. 2014 Feb;35(2):315-23. [+]
  • Zamora-Ros R, Guinó E, Alonso MH, Vidal C, Barenys M, Soriano A, Moreno V. Dietary flavonoids, lignans and colorectal cancer prognosis. Sci Rep. 2015 Sep 15;5:14148. [+]
  • Zamora-Ros R, Shivappa N, Steck SE, Canzian F, Landi S, Alonso MH, Hébert JR, Moreno V. Dietary inflammatory index and inflammatory gene interactions in relation to colorectal cancer risk in the Bellvitge colorectal cancer case-control study. Genes Nutr. 2015 Jan;10(1):447. [+]
  • Zauber P, Bishop T, Taylor C, Sabbath-Solitare M, Marotta S, Tomlinson I. Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract. PLoS One. 2014 Jan 9;9(1):e84498. [+]
  • Zgaga L, Agakov F, Theodoratou E, Farrington SM, Tenesa A, Dunlop MG, McKeigue P, Campbell H. Model selection approach suggests causal association between 25-hydroxyvitamin D and colorectal cancer. PLoS One. 2013 May 24;8(5):e63475. [+]
  • Zgaga L, Theodoratou E, Farrington SM, Din FV, Ooi LY, Glodzik D, Johnston S, Tenesa A, Campbell H, Dunlop MG. Plasma vitamin D concentration influences survival outcome after a diagnosis of colorectal cancer. J Clin Oncol. 2014 Aug 10;32(23):2430-9. [+]
  • Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. World J Gastroenterol. 2015 Apr 14;21(14):4136-49. [+]
  • Šamija I, Lukac J, Mubrin MK, Kirac I, Kovacevic D, Kusic Z. Detection of cytokeratin-20-positive cells in preoperative and postoperative blood samples from colorectal cancer patients by real-time RT-PCR. Int J Biol Markers. 2013 Jun 28;28(2):174-81. [+]

Other publications (selection, from 2012 and older)

  • Tomlinson I, et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007;39(8):984-8.
  • Jaeger E, et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2008;40(1):26-8.
  • Broderick P, et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007;39(11):1315-7.
  • Tenesa A, et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008;40(5):631-7.
  • Tomlinson IP, et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008;40(5):623-30.
  • Papaemmanuil E, et al. Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet 2008;16(12):1477-86.
  • Venkatachalam R, et al. Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer. Gastroenterology 2010;139(6):2221-4.
  • Pittman AM, et al. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet 2008;17(23):3720-7.
  • Houlston RS, et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008 Dec;40(12):1426-35.
  • Wijnen JT, et al. Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology 2009;136(1):131-7.
  • Pittman AM, et al. The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression. Genome Res 2009;19(6):987-93.
  • Tuupanen S, et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 2009;41(8):885-90.
  • Tomlinson IP, et al. COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. Br J Cancer 2010;102(2):447-54.
  • Fletcher O, Houlston RS. Architecture of inherited susceptibility to common cancer. Nat Rev Cancer 2010;10(5):353-61.
  • Giráldez MD, et al. MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. Clin Cancer Res 2010;16(22):5402-13.
  • Abulí A, et al. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology 2010;139(3):788-96.
  • Fernández-Rozadilla C, et al. Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort. PLoS One 2010;5(9).
  • Niittymäki I, et al. Low-penetrance susceptibility variants in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev 2010;19(6):1478-83.
  • Pittman AM, et al. Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H. PLoS Genet 2010 Sep 16;6(9).
  • Houlston RS, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010;42(11):973-7.
  • Ho JW, et al. Replication study of SNP associations for colorectal cancer in Hong Kong Chinese. Br J Cancer 2011;104(2):369-75
  • Kupfer SS, et al. Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians. PLoS One 2011;6(10):e26123.
  • Lubbe SJ, et al. Evaluation of germline BMP4 mutation as a cause of colorectal cancer. Hum Mutat 2011;32(1):E1928-38.
  • Tomlinson IP, et al. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet 2011;7(6):e1002105.
  • Carvajal-Carmona LG, et al. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.
  • Abulí A, et al. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer 2011;11:339.
  • Abulí A, et al. A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. Br J Cancer 2011;105(6):870-5.
  • Lubbe SJ, et al. Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients. Carcinogenesis 2012;33(1):108-12.
  • Giráldez MD, et al. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis 2012;33(3):613-9.
  • Spain SL, et al. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet 2012;21(4):934-46.
COST is supported by the EU Framework Programme Horizon 2020