BackBrowsing Artículos by Author "Castells, Antoni"
Now showing items 1-16 of 16
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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
; 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 ... -
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; 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 ... -
A new approach to epigenome-wide discovery of non-invasive methylation biomarkers for colorectal cancer screening in circulating cell-free DNA using pooled samples
Gallardo-Gómez, María; Moran, Sebastian; Páez de la Cadena, María; Martínez-Zorzano, Vicenta Soledad; Rodríguez-Berrocal, Francisco Javier; Rodríguez-Girondo, Mar; Esteller, Manel; Cubiella, Joaquín; Bujanda Fernández de Pierola, Luis; Castells, Antoni; Balaguer, Francesc; Jover, Rodrigo; De Chiara, Loretta (Biomed Central, 2018-04-16)
Background: Colorectal cancer is the fourth cause of cancer-related deaths worldwide, though detection at early stages associates with good prognosis. Thus, there is a clear demand for novel non-invasive tests for the early ... -
Analysis of A 6-Mirna Signature in Serum from Colorectal Cancer Screening Participants as Non-Invasive Biomarkers for Advanced Adenoma and Colorectal Cancer Detection
Marcuello, Maria; Duran Sanchon, Saray; Moreno, Lorena; Lozano, Juan José; Bujanda Fernández de Pierola, Luis; Castells, Antoni; Gironella, Meritxell (MDPI, 2019-10-12)
Early detection of colorectal cancer (CRC) and its precancerous lesion, advanced adenomas (AA), is critical to improve CRC incidence and prognosis. Circulating microRNAs (miRNAs or miR) are promising non-invasive biomarkers ... -
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; 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) ... -
Colorectal Cancer Genetic Variants Are Also Associated with Serrated Polyposis Syndrome Susceptibility
Arnau Collell, Coral; Soares de Lima, Yasmin; Díaz Gay, Marcos; Muñoz, Jenifer; Carballal, Sabela; Bonjoch, Laia; Moreira, Leticia; Lozano, Juan José; Ocaña, Teresa; Cuatrecasas, Miriam; Díaz de Bustamante, Aranzazu; Castells, Antoni; Capella, Gabriel; Bujanda Fernández de Pierola, Luis; Cubiella, Joaquín; Rodríguez Alcalde, Daniel; Balaguer, Francesc; Ruiz Ponte, Clara; Valle, Laura; Moreno, Víctor; Castellví Bel, Sergi (BMJ Publishing Group, 2020-10)
Background Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic ... -
Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy
Murcia, Oscar; Juárez, Míriam; Rodríguez Soler, María; Hernández Illán, Eva; Giner Calabuig, Mar; Alustiza, Miren; Egoavil, Cecilia; Castillejo, Adela; Alenda, Cristina; Barberá, Víctor; Mangas Sanjuan, Carolina; Yuste, Ana; Bujanda Fernández de Pierola, Luis; Clofent, Joan; Andreu, Montserrat; Castells, Antoni; Llor, Xavier; Zapater, Pedro; Jover, Rodrigo (Public Library of Science, 2018-09-06)
Objective The aim of this study was to validate a molecular classification of colorectal cancer (CRC) based on microsatellite instability (MSI), CpG island methylator phenotype (CIMP) status, BRAF, and KRAS and investigate ... -
Differentially Deregulated MicroRNAs as Novel Biomarkers for Neoplastic Progression in Ulcerative Colitis.
; ; ; ; ; ; ; Bujanda Fernández de Pierola, Luis; ; ; ; ; ; ; ; ; ; (Wolters Kluwer, 2022)
INTRODUCTION: Colorectal cancer (CRC) is a potentially life-threatening complication of long-standing ulcerative colitis (UC). MicroRNAs (miRNA) are epigenetic regulators that have been involved in the development of ... -
Evaluation of Alpha 1-Antitrypsin and the Levels of mRNA Expression of Matrix Metalloproteinase 7, Urokinase Type Plasminogen Activator Receptor and COX-2 for the Diagnosis of Colorectal Cancer
Bujanda Fernández de Pierola, Luis; ; ; ; Enríquez Navascués, José María ; ; ; ; ; ; ; (Public Library of Science, 2013-01-02)
Background: Colorectal cancer (CRC) is the second most common cause of death from cancer in both men and women in the majority of developed countries. Molecular tests of blood could potentially provide this ideal screening ... -
Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome
Castillejo, Adela; Guarinos, Carla; Martínez Canto, Ana; Barberá, Víctor Manuel; Egoavil, Cecilia; Castillejo, María Isabel; Pérez Carbonell, Lucía; Sánchez Heras, Ana Beatriz; Segura, Angel; Ochoa, Enrique; Lázaro, Rafael; Ruiz Ponte, Clara; Bujanda Fernández de Pierola, Luis; Andreu, Montserrat; Castells, Antoni; Carracedo, Angel; Llor, Xavier; Clofent, Juan; Alenda, Cristina; Paya, Artemio; Jover, Rodrigo; Soto, José Luis (BioMed Central, 2011-01)
Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS ... -
Exome Sequencing of Early-Onset Patients Supports Genetic Heterogeneity in Colorectal Cancer
Fernández Rozadilla, Ceres; Álvarez Barona, M.; Quintana, I.; López Novo, A.; Amigo, J.; Cameselle Teijeiro, J. M.; Román, E.; González, Dolors; Llor, Xavier; Bujanda Fernández de Pierola, Luis; Bessa, Xavier; Jover, Rodrigo; Balaguer, Francesc; Castells, Antoni; Castellví Bel, Sergi; Capella, Gabriel; Carracedo, Angel; Valle, Laura; Ruiz Ponte, Clara (Springer, 2021-05-27)
Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop ... -
Genetic Variants Associated with Colorectal Adenoma Susceptibility
Abulí, Anna; Castells, Antoni; Bujanda Fernández de Pierola, Luis; 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 ... -
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; 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 ... -
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; 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 ... -
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; 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 ... -
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer
Toma, Claudio; Díaz Gay, Marcos; Franch Expósito, Sebastià; Arnau Collell, Coral; Overs, Bronwyn; Muñoz, Jenifer; Bonjoch, Laia; Soares de Lima, Yasmin; Ocaña, Teresa; Cuatrecasas, Miriam; Castells, Antoni; Bujanda Fernández de Pierola, Luis; Balaguer, Francesc; Cubiella, Joaquín; Caldés, Trinidad; Fullerton, Janice M.; Castellví Bel, Sergi (Wiley, 2019-11)
Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we combined whole-exome sequencing (WES) and linkage analysis in ...