Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

por Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Publicado 2013

Germline gain‐of‐function MMP11 variant results in an aggressive form of colorectal cancer

por Martin‐Morales, Lorena, Manzano, Sara, Rodrigo‐Faus, Maria, Vicente‐Barrueco, Adrian, Lorca, Victor, Núñez‐Moreno, Gonzalo, Bragado, Paloma, Porras, Almudena, Caldes, Trinidad, Garre, Pilar, Gutierrez‐Uzquiza, Alvaro
Publicado 2022

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

por Martin-Morales, Lorena, Rofes, Paula, Diaz-Rubio, Eduardo, Llovet, Patricia, Lorca, Victor, Bando, Inmaculada, Perez-Segura, Pedro, de la Hoya, Miguel, Garre, Pilar, Garcia-Barberan, Vanesa, Caldes, Trinidad
Publicado 2018

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

por Gayarre, Javier, Martín-Gimeno, Paloma, Osorio, Ana, Paumard, Beatriz, Barroso, Alicia, Fernández, Victoria, de la Hoya, Miguel, Rojo, Alejandro, Caldés, Trinidad, Palacios, José, Urioste, Miguel, Benítez, Javier, García, María J
Publicado 2017

Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging

por García-Saenz, José Angel, Ayllón, Patricia, Laig, Marion, Acosta-Eyzaguirre, Daniel, García-Esquinas, Marta, Montes, Myriam, Sanz, Julián, Barquín, Miguel, Moreno, Fernando, Garcia-Barberan, Vanesa, Díaz-Rubio, Eduardo, Caldes, Trinidad, Romero, Atocha
Publicado 2017

BRCA1 Alternative splicing landscape in breast tissue samples

por Romero, Atocha, García-García, Francisco, López-Perolio, Irene, Ruiz de Garibay, Gorka, García-Sáenz, José A, Garre, Pilar, Ayllón, Patricia, Benito, Esperanza, Dopazo, Joaquín, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel
Publicado 2015

Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer

por Herrera, Mercedes, Llorens, Carlos, Rodríguez, Marta, Herrera, Alberto, Ramos, Ricardo, Gil, Beatriz, Candia, Antonio, Larriba, María Jesús, Garre, Pilar, Earl, Julie, Rodríguez-Garrote, Mercedes, Caldés, Trinidad, Bonilla, Félix, Carrato, Alfredo, García-Barberán, Vanesa, Peña, Cristina
Publicado 2018

Colon cancer molecular subtypes identified by expression profiling and associated to stroma, mucinous type and different clinical behavior

por Perez Villamil, Beatriz, Romera Lopez, Alejandro, Hernandez Prieto, Susana, Lopez Campos, Guillermo, Calles, Antonio, Lopez Asenjo, Jose Antonio, Sanz Ortega, Julian, Fernandez Perez, Cristina, Sastre, Javier, Alfonso, Rosario, Caldes, Trinidad, Martin Sanchez, Fernando, Diaz Rubio, Eduardo
Publicado 2012

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

por Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Poves, Carmen, Fernández-Aceñero, María Jesús, Ruiz-Ponte, Clara, Llovet, Patricia, Marrupe, David, García-Barberán, Vanesa, García-Paredes, Beatriz, Pérez-Segura, Pedro, de la Hoya, Miguel, Díaz-Rubio, Eduardo, Caldés, Trinidad, Garre, Pilar
Publicado 2017

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

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

por Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar
Publicado 2019

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

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

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

por Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A., Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana
Publicado 2013

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

por Gracia-Aznarez, Francisco Javier, Fernandez, Victoria, Pita, Guillermo, Peterlongo, Paolo, Dominguez, Orlando, de la Hoya, Miguel, Duran, Mercedes, Osorio, Ana, Moreno, Leticia, Gonzalez-Neira, Anna, Rosa-Rosa, Juan Manuel, Sinilnikova, Olga, Mazoyer, Sylvie, Hopper, John, Lazaro, Conchi, Southey, Melissa, Odefrey, Fabrice, Manoukian, Siranoush, Catucci, Irene, Caldes, Trinidad, Lynch, Henry T., Hilbers, Florentine S. M., van Asperen, Christi J., Vasen, Hans F. A., Goldgar, David, Radice, Paolo, Devilee, Peter, Benitez, Javier
Publicado 2013

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

por Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F, Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S, Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, kConFab, Valenzuela-Palomo, Alberto, Velasco, Eladio A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
Publicado 2019

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

por Walker, Logan C, Marquart, Louise, Pearson, John F, Wiggins, George A R, O'Mara, Tracy A, Parsons, Michael T, Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P, Radice, Paolo, Frost, Debra, Godwin, Andrew K, Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N, Caldes, Trinidad, Hogervorst, Frans BL, Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J, Andrulis, Irene L, Lindblom, Annika, Nussbaum, Robert L, Nathanson, Katherine L, Chenevix-Trench, Georgia, Antoniou, Antonis C, Couch, Fergus J, Spurdle, Amanda B
Publicado 2017

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

por Walker, Logan C., Marquart, Louise, Pearson, John F., Wiggins, George A. R., O’Mara, Tracy A., Parsons, Michael T., Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P., Radice, Paolo, Frost, Debra, Godwin, Andrew K., Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N., Caldes, Trinidad, Hogervorst, Frans B. L., Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J., Andrulis, Irene L., Lindblom, Annika, Nussbaum, Robert L., Nathanson, Katherine L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Couch, Fergus J., Spurdle, Amanda B.
Publicado 2018

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

por Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, Bonadona, Valérie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean-Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Beth Terry, Mary, Noguès, Catherine, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, Rookus, Matti A.
Publicado 2021

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

por Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C, McDonald, Jasmine A, Mooij, Thea M, Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Véronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J, Dommering, Charlotte J, Oosterwijk, Jan C, Ausems, Margreet G E M, Kriege, Mieke, Buys, Saundra S, Andrulis, Irene L, John, Esther M, Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, van Leeuwen, Flora E, Goldgar, David, Milne, Roger L, Easton, Douglas F, Rookus, Matti A, Andrieu, Nadine
Publicado 2019