Role of POLE and POLD1 in familial cancer
Mur, Pilar, García-Mulero, Sandra, del Valle, Jesús, Magraner-Pardo, Lorena, Vidal, August, Pineda, Marta, Cinnirella, Giacomo, Martín-Ramos, Edgar, Pons, Tirso, López-Doriga, Adriana, Belhadj, Sami, Feliubadaló, Lidia, Munoz-Torres, Pau M., Navarro, Matilde, Grau, Elia, Darder, Esther, Llort, Gemma, Sanz, Judit, Ramón y Cajal, Teresa, Balmana, Judith, Brunet, Joan, Moreno, Victor, Piulats, Josep M., Matías-Guiu, Xavier, Sanz-Pamplona, Rebeca, Aligué, Rosa, Capellá, Gabriel, Lázaro, Conxi, Valle, Laura
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
Get full text
Journal Article
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases
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
Published in PloS one (23.07.2013)
Published in PloS one (23.07.2013)
Get full text
Journal Article
Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
Hernan, Imma, Borràs, Emma, de Sousa Dias, Miguel, Gamundi, María José, Mañé, Begoña, Llort, Gemma, Agúndez, José A.G, Blanca, Miguel, Carballo, Miguel
Published in The Journal of molecular diagnostics : JMD (01.05.2012)
Published in The Journal of molecular diagnostics : JMD (01.05.2012)
Get full text
Journal Article
Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study
Márquez-Rodas, Iván, Pollán, Marina, Escudero, María José, Ruiz, Amparo, Martín, Miguel, Santaballa, Ana, Martínez Del Prado, Purificación, Batista, Norberto, Andrés, Raquel, Antón, Antonio, Llombart, Antonio, Fernandez Aramburu, Antonio, Adrover, Encarnación, González, Sonia, Seguí, Miguel Angel, Calvo, Lourdes, Lizón, José, Rodríguez Lescure, Álvaro, Ramón Y Cajal, Teresa, Llort, Gemma, Jara, Carlos, Carrasco, Eva, López-Tarruella, Sara
Published in PloS one (01.10.2017)
Published in PloS one (01.10.2017)
Get full text
Journal Article
CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions
Herrera-Pariente, Cristina, Bonjoch, Laia, Muñoz, Jenifer, Fernàndez, Guerau, Soares de Lima, Yasmin, Mahmood, Romesa, Cuatrecasas, Miriam, Ocaña, Teresa, Lopez-Prades, Sandra, Llargués-Sistac, Gemma, Domínguez-Rovira, Xavier, Llach, Joan, Luzko, Irina, Díaz-Gay, Marcos, Lazaro, Conxi, Brunet, Joan, Castillo-Manzano, Carmen, García-González, María Asunción, Lanas, Angel, Carrillo, Marta, Hernández San Gil, Raquel, Quintero, Enrique, Sala, Nuria, Llort, Gemma, Aguilera, Lara, Carot, Laura, Diez-Redondo, Pilar, Jover, Rodrigo, Ramon y Cajal, Teresa, Cubiella, Joaquín, Castells, Antoni, Balaguer, Francesc, Bujanda, Luis, Castellví-Bel, Sergi, Moreira, Leticia
Published in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association (01.07.2024)
Published in Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association (01.07.2024)
Get full text
Journal Article
Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer
GUTIERREZ-ENRIQUEZ, Sara, DE LA HOYA, Miguel, TEJADA, Maria-Isabel, CALDES, Trinidad, DIEZ, Orland, MARTINEZ-BOUZAS, Cristina, SANCHEZ DE ABAJO, Ana, RAMON Y CAJAL, Teresa, LLORT, Gemma, BLANCO, Ignacio, BERISTAIN, Elena, DIAZ-RUBIO, Eduardo, ALONSO, Carmen
Published in Breast cancer research and treatment (01.05.2007)
Published in Breast cancer research and treatment (01.05.2007)
Get full text
Journal Article
The wide spectrum of POT1 gene variants correlates with multiple cancer types
Calvete, Oriol, Garcia-Pavia, Pablo, Domínguez, Fernando, Bougeard, Gaelle, Kunze, Kristin, Braeuninger, Andreas, Teule, Alex, Lasa, Adriana, Ramón Y Cajal, Teresa, Llort, Gemma, Fernández, Victoria, Lázaro, Conxi, Urioste, Miguel, Benitez, Javier
Published in European journal of human genetics : EJHG (01.11.2017)
Published in European journal of human genetics : EJHG (01.11.2017)
Get full text
Journal Article
Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction
Stjepanovic, Neda, Villacampa, Guillermo, Nead, Kevin T., Torres-Esquius, Sara, Melis, Guadalupe G., Nathanson, Katherine L., Teule, Alexandre, Brunet, Joan, y Cajal, Teresa R., Llort, Gemma, Dienstmann, Rodrigo, Rue, Montserrat, Domchek, Susan M., Balmaña, Judith
Published in European journal of cancer (1990) (01.06.2020)
Published in European journal of cancer (1990) (01.06.2020)
Get full text
Journal Article
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
Munté, Elisabet, Feliubadaló, Lídia, Del Valle, Jesús, González, Sara, Ramos-Muntada, Mireia, Balmaña, Judith, Ramon y Cajal, Teresa, Tuset, Noemí, Llort, Gemma, Cadiñanos, Juan, Brunet, Joan, Capellá, Gabriel, Lázaro, Conxi, Pineda, Marta
Published in The Journal of molecular diagnostics : JMD (01.08.2024)
Published in The Journal of molecular diagnostics : JMD (01.08.2024)
Get full text
Journal Article
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome
Sánchez, Ariadna, Roos, Victorine H., Navarro, Matilde, Pineda, Marta, Caballol, Berta, Moreno, Lorena, Carballal, Sabela, Rodríguez-Alonso, Lorena, Ramon y Cajal, Teresa, Llort, Gemma, Piñol, Virginia, López-Fernández, Adrià, Salces, Inmaculada, Picó, Maria Dolores, Rivas, Laura, Bujanda, Luis, Garzon, Marta, Pizarro, Angeles, Martinez de Castro, Eva, López-Arias, Maria Jesus, Poves, Carmen, Garau, Catalina, Rodriguez-Alcalde, Daniel, Herraiz, Maite, Alvarez-Urrutia, Cristina, Dacal, Andres, Carrillo-Palau, Marta, Cid, Lucia, Ponce, Marta, Barreiro-Alonso, Eva, Saperas, Esteban, Aguirre, Elena, Romero, Cristina, Bastiaansen, Barbara, Gonzalez-Acosta, Maribel, Morales-Romero, Blai, Ocaña, Teresa, Rivero-Sánchez, Liseth, Jung, Gerhard, Bessa, Xavier, Cubiella, Joaquin, Jover, Rodrigo, Rodríguez-Moranta, Francisco, Balmaña, Judith, Brunet, Joan, Castells, Antoni, Dekker, Evelien, Capella, Gabriel, Serra-Burriel, Miquel, Moreira, Leticia, Pellise, Maria, Balaguer, Francesc
Published in Clinical gastroenterology and hepatology (01.03.2022)
Published in Clinical gastroenterology and hepatology (01.03.2022)
Get full text
Journal Article
Mo1154 IS GASTRIC CANCER SCREENING NECESSARY IN LYNCH SYNDROME?
Sanchez, Ariadna, Arango, Andres, Moreta, Maria Jose, Llach, Joan, Centeno, Mireia Diaz, Lopez-Fernandez, Adrià, Aguilera, Lara, Salces, Inmaculada, Llort, Gemma, Bujanda, Luis, Carrillo-Palau, Marta, Hernández, Goretti, Rodríguez-Alcalde, Daniel, Picó, Maria Dolores, Jover, Rodrigo, Poves, Carmen F., Barreiro-Alonso, Eva, Rivas, Andres Dacal, Herraiz, Maite, Cubiella, Joaquin, Piñol, Virginia, Peñas, Beatriz, Calle, Lorena Moreno, Rivero, Liseth, Ocaña, Teresa, Carballal, Sabela, Castells, Antoni, Pellise, Maria, Balaguer, Francesc, Moreira, Leticia
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Get full text
Journal Article
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels
Feliubadaló, Lídia, López‐Fernández, Adrià, Pineda, Marta, Díez, Orland, Valle, Jesús, Gutiérrez‐Enríquez, Sara, Teulé, Alex, González, Sara, Stjepanovic, Neda, Salinas, Mónica, Capellá, Gabriel, Brunet, Joan, Lázaro, Conxi, Balmaña, Judith, Campos, Olga, Carrasco, Estela, Cuesta, Raquel, Darder, Esther, Gadea, Neus, Gómez, Carolina, Grau, Elia, Iglesias, Silvia, Izquierdo, Angel, Llort, Gemma, Menéndez, Mireia, Moles‐Fernández, Alejandro, Montes, Eva, Muñoz, Xavier, Navarro, Matilde, Ramon y Cajal, Teresa, Sanz, Judit, Solanes, Ares, Stradella, Agostina, Tornero, Eva, Torres‐Esquius, Sara, Tuset, Noemí, Urgell, Gisela, Velasco, Angela
Published in International journal of cancer (15.11.2019)
Published in International journal of cancer (15.11.2019)
Get full text
Journal Article
Clinical and Pathological Characterization of Lynch-Like Syndrome
Picó, María Dolores, Castillejo, Adela, Murcia, Óscar, Giner-Calabuig, Mar, Alustiza, Miren, Sánchez, Ariadna, Moreira, Leticia, Pellise, María, Castells, Antoni, Carrillo-Palau, Marta, Ramon y Cajal, Teresa, Gisbert-Beamud, Alexandra, Llort, Gemma, Yagüe, Carmen, López-Fernández, Adriá, Alvarez-Urturi, Cristina, Cubiella, Joaquin, Rivas, Laura, Rodríguez-Alcalde, Daniel, Herraiz, Maite, Garau, Catalina, Dolz, Carlos, Bujanda, Luis, Cid, Lucia, Povés, Carmen, Garzon, Marta, Salces, Inmaculada, Ponce, Marta, Hernández-Villalba, Luís, Alenda, Cristina, Balaguer, Francesc, Soto, Jose-Luis, Jover, Rodrigo
Published in Clinical gastroenterology and hepatology (01.02.2020)
Published in Clinical gastroenterology and hepatology (01.02.2020)
Get full text
Journal Article
Mo1151 COLORECTAL ADENOMA PREVALENCE AND INCIDENCE IN LYNCH SYNDROME BY GENE
Sanchez, Ariadna, Castillo, Joaquin, Roos, Victorine, Navarro, Matilde, Pineda, Marta, Oliva, Berta Caballol, Calle, Lorena Moreno, Carballal, Sabela, Rodriguez-Alonso, Lorena, Cajal, Teresa Ramon Y, Llort, Gemma, Piñol, Virginia, Lopez-Fernandez, Adrià, Salces, Inmaculada, Picó, Maria Dolores, Rivas, Laura, Bujanda, Luis, Garzon-Benavides, Marta, Pizarro, Angeles, De Castro, Eva M., Lopez-Arias, Maria Jesús, Poves, Carmen F., Garau, Catalina, Rodríguez-Alcalde, Daniel, Herraiz, Maite, Alvarez, Cristina, Rivas, Andres Dacal, Carrillo-Palau, Marta, Cid, Lucía, Ponce, Marta, Barreiro-Alonso, Eva, Saperas, Esteban, Aguirre, Elena, Ocaña, Teresa, Rivero, Liseth, Bessa, Xavier, Cubiella, Joaquin, Jover, Rodrigo, Rodriguez-Moranta, Francisco, Balmaña, Judit, Brunet, Joan, Castells, Antoni, Dekker, Evelien, Capella, Gabriel, Moreira, Leticia, Pellise, Maria, Balaguer, Francesc
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Get full text
Journal Article
Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers
Lozano, Rebeca, Castro, Elena, Lopez-Campos, Fernando, Thorne, Heather, Ramirez-Backhaus, Miguel, Aragon, Isabel M., Cendón-Florez, Ylenia, Gutierrez-Pecharroman, Ana, Salles, Daniela C., Romero-Laorden, Nuria, Lorente, David, González-Peramato, Pilar, Calatrava, Ana, Alonso, Concepción, Anido, Urbano, Arévalo-Lobera, Sara, Balmaña, Judith, Chirivella, Isabel, Juan-Fita, María José, Llort, Gemma, y Cajal, Teresa Ramón, Almagro, Elena, Alameda, Daniel, López-Casas, Pedro P., Herrera, Bernardo, Mateo, Joaquin, Pritchard, Colin C., Antonarakis, Emmanuel S., Lotan, Tamara L., Rubio-Briones, José, Sandhu, Shahneen, Olmos, David
Published in European journal of cancer (1990) (01.05.2023)
Published in European journal of cancer (1990) (01.05.2023)
Get full text
Journal Article
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis
Rofes, Paula, González, Sara, Navarro, Matilde, Moreno-Cabrera, José Marcos, Solanes, Ares, Darder, Esther, Carrasco, Estela, Iglesias, Sílvia, Salinas, Mónica, Gómez, Carolina, Velasco, Àngela, Tuset, Noemí, Varela, Mar, Llort, Gemma, Ramon y Cajal, Teresa, Grau, Èlia, Dueñas, Núria, de la Ossa Merlano, Napoleón, Matías-Guiu, Xavier, Rivera, Bárbara, Balmaña, Judith, Pineda, Marta, Brunet, Joan, Capellá, Gabriel, del Valle, Jesús, Lázaro, Conxi
Published in The Journal of molecular diagnostics : JMD (01.11.2021)
Published in The Journal of molecular diagnostics : JMD (01.11.2021)
Get full text
Journal Article
PROREPAIR-A: Clinical and molecular characterization study of prostate cancer (PC) patients with and without previously known germline BRCA1/2 mutations
Lozano, Rebeca, Castro, Elena, Aragon, Isabel, Thorne, Heather, López-Campos, Fernando, Sanz, Alejandro, Alonso, Concepción, Anido, Urbano, maria Jose, Juan, Gutierrez Pecharroman, Ana, Ramirez-Backhaus, Miguel, Balmana Gelpi, Judith, Chirivella, Isabel, Llort, Gemma, Romero-Laorden, Nuria, Arevalo, Sara, Rubio, Jose, Di Domenico, Tomás, Sandhu, Shahneen Kaur, Olmos, David
Published in Journal of clinical oncology (20.05.2020)
Published in Journal of clinical oncology (20.05.2020)
Get full text
Journal Article
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): Genotype and phenotype characteristics in a cohort of 197 patients
Sanchez-Heras, Ana Beatriz, Castillejo, Adela, García-Diaz, Juan de Dios, Robledo, Mercedes, Teule, Alex, Sánchez, Rosario, Zuñiga, Angel, Lastra, Enrique, Duran Dominguez, Mercedes, Llort, Gemma, Yague, Carmen, Ramon Y Cajal, Teresa, Lopez, Consol, Lopez, Adria, Balmana Gelpi, Judith, Robles, Luis, Fonfria Esparza, María, Chirivella, Isabel, Gomez, Luis, Soto, José Luís
Published in Journal of clinical oncology (20.05.2020)
Published in Journal of clinical oncology (20.05.2020)
Get full text
Journal Article
Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
Get full text
Journal Article
Effects of lifestyle and diet as modifiers of risk of breast cancer (BC) in BRCA1 and BRCA2 carriers
Pollan, Marina, Torres, Asunción, Ramon Y Cajal, Teresa, Llort, Gemma, Castello, Adela, Fisas, David, Yague, Carmen, Lopez, Consol, Leon, Maria Teresa
Published in Journal of clinical oncology (20.05.2017)
Published in Journal of clinical oncology (20.05.2017)
Get full text
Journal Article