Listar por autor "Castellví-Bel, Sergi"

Mostrando ítems 1-7 de 7

    • Thumbnail

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

      Fernández Rozadilla, Ceres; Cazier, Jean-Baptiste; Tomlinson, Ian P.; Carvajal Carmona, Luis G.; Palles, Claire; Lamas, María J.; Baiget, Montserrat; López Fernández, Luis A.; Brea Fernández, Alejandro; Abulí, Anna; Bujanda Fernández de Pierola, Luis ORCID; Clofent, Juan; González, Dolors; Xicola, Rosa; Andreu, Montserrat; Bessa, Xavier; Jover, Rodrigo; Llor, Xavier; Moreno, Víctor; Castells, Antoni; Carracedo, Angel; Castellví-Bel, Sergi; Ruiz Ponte, Clara; EPICOLON Consortium (BioMed Central, 2013-01)
      Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC ...
    • Thumbnail

      A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer 

      Antelo, Marina; Balaguer, Francesc; Shia, Jinru; Shen, Yan; Hur, Keun; Moreira, Leticia; Cuatrecasas, Miriam; Bujanda Fernández de Pierola, Luis ORCID; Giraldez, María Dolores; Takahashi, Masanobu; Cabanne, Ana; Barugel, Mario Edmund; Arnold, Mildred; Roca, Enrique Luis; Andreu, Montserrat; Castellví-Bel, Sergi; Llor, Xavier; Jover, Rodrigo; Castells, Antoni; Boland, C. Richard; Goel, Ajay (Public Library of Science, 2012-09-25)
      Objective: Early-onset colorectal cancer (CRC) represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized ...
    • Thumbnail

      Association between CASP8-652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study 

      Pardini, Barbara; Verderio, Paolo; Pizzamiglio, Sara; Nici, Carmela; Maiorana, Maria Valeria; Naccarati, Alessio; Vodickova, Ludmila; Vymetalkova, Veronika; Veneroni, Silvia; Daidone, Maria Grazia; Ravagnani, Fernando; Bianchi, Tiziana; Bujanda Fernández de Pierola, Luis ORCID; Carracedo, Angel; Castells, Antoni; Ruiz Ponte, Clara; Morreau, Hans; Howarth, Kimberley; Jones, Angela; Castellví-Bel, Sergi; Li, Li; Tomlinson, Ian; Van Wezel, Tom; Vodicka, Pavel; Radice, Paolo; Peterlongo, Paolo; EPICOLON Consortium (Public Library Science, 2014-01)
      The common 2652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) ...
    • Thumbnail

      Genetic Variants Associated with Colorectal Adenoma Susceptibility 

      Abulí, Anna; Castells, Antoni; Bujanda Fernández de Pierola, Luis ORCID; Lozano, Juan José; Bessa, Xavier; Hernández, Cristina; Álvarez-Urturi, Cristina; Pellisé, María; Esteban-Jurado, Clara; Hijona Muruamendiaraz, Elizabeth; Burón, Andrea; Macià, Francesc; Grau, Jaume; Guayta, Rafael; Castellví-Bel, Sergi; Andreu, Montserrat; PROCOLON research group (PUBLIC LIBRARY SCIENCE, 2016-04-14)
      Background Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk. Aim To determine if these genetic variants are associated also with adenoma susceptibility and may ...
    • Thumbnail

      Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing 

      Toma, Claudio; Díaz Gay, Marcos; Soares de Lima, Yasmin; Arnau Collell, Coral; Franch Expósito, Sebastià; Muñoz, Jenifer; Overs, Bronwyn; Bonjoch, Laia; Carballal, Sabela; Ocaña, Teresa; Cuatrecasas, Miriam; Díaz de Bustamante, Aranzazu; Castells, Antoni; Bujanda Fernández de Pierola, Luis ORCID; Cubiella, Joaquín; Balaguer, Francesc; Rodríguez Alcalde, Daniel; Fullerton, Janice M.; Castellví-Bel, Sergi (Lippincott Williams & Wilkins, 2019-09-19)
      OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage ...
    • Thumbnail

      Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer 

      Díaz Gay, Marcos; Franch Expósito, Sebastià; Arnau Collell, Coral; Park, Solip; Supek, Fran; Muñoz, Jenifer; Bonjoch, Laia; Gratacós Mulleras, Anna; Sánchez Rojas, Paula A.; Esteban-Jurado, Clara; Ocaña, Teresa; Cuatrecasas, Miriam; Vila Casadesús, Maria; Lozano, Juan José; Parra, Genis; Laurie, Steve; Beltran, Sergi; EPICOLON Consortium; Castells, Antoni; Bujanda Fernández de Pierola, Luis ORCID; Cubiella, Joaquín; Balaguer, Francesc; Castellví-Bel, Sergi (MDPI, 2019-03-13)
      Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
    • Thumbnail

      The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals 

      Abulí, Anna; Bujanda Fernández de Pierola, Luis ORCID; Mun, Jenifer; Buch, Stephan; Schafmayer, Clemens; Maiorana, Maria Valeria; Veneroni, Silvia; Van Wezel, Tom; Liu, Tao; Westers, Helga; Esteban-Jurado, Clara; Ocan, Teresa; Pique, Josep M.; Andreu, Montserrat; Jover, Rodrigo; Carracedo, Angel; Xicola, Rosa M.; Llor, Xavier; Castells, Antoni; The EPICOLON Consortium; Dunlop15, Malcolm; Hofstra, Robert; Lindblom, Annika; Wijnen, Juul; Peterlongo, Paolo; Hampe, Jochen; Ruiz- Ponte, Clara; Castellví-Bel, Sergi (Public Library Science, 2014-04-17)
      Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial ...