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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 ...
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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 ...
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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 ...
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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; Sarasqueta, Cristina; Cosme Jiménez, Ángel; Hijona Muruamendiaraz, Elizabeth; Enríquez Navascués, José María; Placer Galán, Carlos Teodosio; Villarreal, Eloisa; Herreros Villanueva, Marta; Giraldez, Maria D.; Gironella, Meritxell; Balaguer, Francesc; Castells, Antoni (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 ...
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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 ...
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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) ...
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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 ...
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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 ...
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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 ...
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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 ...
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Bujanda Fernández de Pierola, Luis (13)
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