Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

por Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Ángel, Ruiz-Ponte, Clara
Publicado 2009

Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype

por Gonzalo, Victoria, Lozano, Juan Jose, Alonso-Espinaco, Virginia, Moreira, Leticia, Muñoz, Jenifer, Pellisé, Maria, Castellví-Bel, Sergi, Bessa, Xavier, Andreu, Montserrat, Xicola, Rosa M., Llor, Xavier, Ruiz-Ponte, Clara, Carracedo, Angel, Jover, Rodrigo, Castells, Antoni, Balaguer, Francesc
Publicado 2014

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers

por Golubicki, Mariano, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Carballido, Marcela, Robbio, Juan, Cisterna, Daniel, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Castellví-Bel, Sergi, Antelo, Marina
Publicado 2021

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

por Bonjoch, Laia, Soares de Lima, Yasmin, Díaz-Gay, Marcos, Dotti, Isabella, Muñoz, Jenifer, Moreira, Leticia, Carballal, Sabela, Ocaña, Teresa, Cuatrecasas, Miriam, Ortiz, Oswaldo, Castells, Antoni, Pellisé, Maria, Balaguer, Francesc, Salas, Azucena, Alexandrov, Ludmil B., Castellví-Bel, Sergi
Publicado 2023

Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer

por 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, Luis, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Fullerton, Janice M., Castellví‐Bel, Sergi
Publicado 2019

Aberrant Gene Promoter Methylation Associated with Sporadic Multiple Colorectal Cancer

por Gonzalo, Victoria, Lozano, Juan José, Muñoz, Jenifer, Balaguer, Francesc, Pellisé, Maria, de Miguel, Cristina Rodríguez, Andreu, Montserrat, Jover, Rodrigo, Llor, Xavier, Giráldez, M. Dolores, Ocaña, Teresa, Serradesanferm, Anna, Alonso-Espinaco, Virginia, Jimeno, Mireya, Cuatrecasas, Miriam, Sendino, Oriol, Castellví-Bel, Sergi, Castells, Antoni
Publicado 2010

Validation of miR-1228-3p as Housekeeping for MicroRNA Analysis in Liquid Biopsies from Colorectal Cancer Patients

por Duran-Sanchon, Saray, Vila-Navarro, Elena, Marcuello, Maria, Lozano, Juan José, Muñoz, Jenifer, Cubiella, Joaquín, Diez, Maria Soledad, Bujanda, Luis, Lanas, Angel, Jover, Rodrigo, Hernández, Vicent, Quintero, Enrique, Herreros-Villanueva, Marta, Martín, Ana Carmen, Pérez-Palacios, Rosa, Arroyo, Rocio, Castells, Antoni, Gironella, Meritxell
Publicado 2019

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer

por Herrera-Pariente, Cristina, Capó-García, Roser, Díaz-Gay, Marcos, Carballal, Sabela, Muñoz, Jenifer, Llach, Joan, Sánchez, Ariadna, Bonjoch, Laia, Arnau-Collell, Coral, Soares de Lima, Yasmin, Golubicki, Mariano, Jung, Gerhard, Lozano, Juan José, Castells, Antoni, Balaguer, Francesc, Bujanda, Luis, Castellví-Bel, Sergi, Moreira, Leticia
Publicado 2021

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

por Esteban-Jurado, Clara, Franch-Expósito, Sebastià, Muñoz, Jenifer, Ocaña, Teresa, Carballal, Sabela, López-Cerón, Maria, Cuatrecasas, Miriam, Vila-Casadesús, Maria, Lozano, Juan José, Serra, Enric, Beltran, Sergi, Brea-Fernández, Alejandro, Ruiz-Ponte, Clara, Castells, Antoni, Bujanda, Luis, Garre, Pilar, Caldés, Trinidad, Cubiella, Joaquín, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2016

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

por 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, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Rodríguez-Alcalde, Daniel, Fullerton, Janice M., Castellví-Bel, Sergi
Publicado 2019

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

por Golubicki, Mariano, Bonjoch, Laia, Acuña-Ochoa, José G., Díaz-Gay, Marcos, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Cisterna, Daniel, Schubert, Stephanie A., Nielsen, Maartje, van Wezel, Tom, Goldberg, Yael, Pikarsky, Eli, Robbio, Juan, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Antelo, Marina, Castellví-Bel, Sergi
Publicado 2020

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Moreira, Leticia, Ocaña, Teresa, Cuatrecasas, Miriam, Herrera-Pariente, Cristina, Carballal, Sabela, Moreno, Lorena, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2021

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

por Esteban-Jurado, Clara, Vila-Casadesús, Maria, Garre, Pilar, Lozano, Juan José, Pristoupilova, Anna, Beltran, Sergi, Muñoz, Jenifer, Ocaña, Teresa, Balaguer, Francesc, López-Cerón, Maria, Cuatrecasas, Miriam, Franch-Expósito, Sebastià, Piqué, Josep M., Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara, Abulí, Anna, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi
Publicado 2015

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

por 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, Capellà, Gabriel, Bujanda, Luis, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Ruiz-Ponte, Clara, Valle, Laura, Moreno, Victor, Castellvi-Bel, Sergi
Publicado 2020

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

por Esteban-Jurado, Clara, Giménez-Zaragoza, David, Muñoz, Jenifer, Franch-Expósito, Sebastià, Álvarez-Barona, Miriam, Ocaña, Teresa, Cuatrecasas, Miriam, Carballal, Sabela, López-Cerón, María, Marti-Solano, Maria, Díaz-Gay, Marcos, van Wezel, Tom, Castells, Antoni, Bujanda, Luis, Balmaña, Judith, Gonzalo, Victoria, Llort, Gemma, Ruiz-Ponte, Clara, Cubiella, Joaquín, Balaguer, Francesc, Aligué, Rosa, Castellví-Bel, Sergi
Publicado 2017

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

por 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, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2019

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

por Abulí, Anna, Bujanda, Luis, Muñoz, Jenifer, Buch, Stephan, Schafmayer, Clemens, Valeria Maiorana, Maria, Veneroni, Silvia, van Wezel, Tom, Liu, Tao, Westers, Helga, Esteban-Jurado, Clara, Ocaña, Teresa, Piqué, Josep M., Andreu, Montserrat, Jover, Rodrigo, Carracedo, Angel, Xicola, Rosa M., Llor, Xavier, Castells, Antoni, Dunlop, Malcolm, Hofstra, Robert, Lindblom, Annika, Wijnen, Juul, Peterlongo, Paolo, Hampe, Jochen, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2014

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

por Abulí, Anna, Fernández-Rozadilla, Ceres, Alonso-Espinaco, Virginia, Muñoz, Jenifer, Gonzalo, Victoria, Bessa, Xavier, González, Dolors, Clofent, Joan, Cubiella, Joaquin, Morillas, Juan D, Rigau, Joaquim, Latorre, Mercedes, Fernández-Bañares, Fernando, Peña, Elena, Riestra, Sabino, Payá, Artemio, Jover, Rodrigo, Xicola, Rosa M, Llor, Xavier, Carvajal-Carmona, Luis, Villanueva, Cristina M, Moreno, Victor, Piqué, Josep M, Carracedo, Angel, Castells, Antoni, Andreu, Montserrat, Ruiz-Ponte, Clara, Castellví-Bel, Sergi
Publicado 2011

Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

por Arnau-Collell, Coral, Díez-Villanueva, Anna, Bellosillo, Beatriz, Augé, Josep M., Muñoz, Jenifer, Guinó, Elisabet, Moreira, Leticia, Serradesanferm, Anna, Pozo, Àngels, Torà-Rocamora, Isabel, Bonjoch, Laia, Ibañez-Sanz, Gemma, Obon-Santacana, Mireia, Moratalla-Navarro, Ferran, Sanz-Pamplona, Rebeca, Márquez Márquez, Carmen, Rueda Miret, Rebeca, Pérez Berbegal, Rocio, Piquer Velasco, Gabriel, Hernández Rodríguez, Cristina, Grau, Jaume, Castells, Antoni, Borràs, Josep M., Bessa, Xavier, Moreno, Victor, Castellví-Bel, Sergi
Publicado 2022

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi
Publicado 2023