Search Results - "llort, Gemma"

Role of POLE and POLD1 in familial cancer by 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

“…Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC),…”
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CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions by 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

“…Background CDH1 and CTNNA1 remain as the main genes for hereditary gastric cancer. However, they only explain a small fraction of gastric cancer cases with…”
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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases by 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

“…The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately…”
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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing by Hernan, Imma, Borràs, Emma, de Sousa Dias, Miguel, Gamundi, María José, Mañé, Begoña, Llort, Gemma, Agúndez, José A.G, Blanca, Miguel, Carballo, Miguel

“…Advances in sequencing technologies, such as next-generation sequencing (NGS), represent an opportunity to perform genetic testing in a clinical scenario. In…”
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Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM "El Álamo III" retrospective study by 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

“…To determine the frequency of breast cancer (BC) patients with hereditary risk features in a wide retrospective cohort of patients in Spain. a retrospective…”
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CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions by 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

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Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer by 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

“…Germ-line mutations in BRCA1 and BRCA2 are responsible for about 30-60% of the hereditary breast and ovarian cancer (HBOC). A large number of point mutations…”
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The wide spectrum of POT1 gene variants correlates with multiple cancer types by 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

“…The POT1 protein binds and protects telomeres. Germline variants in the POT1 gene have recently been shown to be associated with risk of developing tumors in…”
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Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction by 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

“…Whether risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 carriers reduces the breast cancer (BC) risk is conflicting, potentially due to methodological…”
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Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data by 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

“…The molecular diagnosis of mismatch repair–deficient cancer syndromes is hampered by difficulties in sequencing the PMS2 gene, mainly owing to the PMS2CL…”
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Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome by 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

“…Colonoscopy reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC (PCCRC)…”
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Mo1154 IS GASTRIC CANCER SCREENING NECESSARY IN LYNCH SYNDROME? by 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

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Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels by 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

“…Multigene panels provide a powerful tool for analyzing several genes simultaneously. We evaluated the frequency of pathogenic variants (PV) in customized…”
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Clinical and Pathological Characterization of Lynch-Like Syndrome by 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

“…Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no…”
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Mo1151 COLORECTAL ADENOMA PREVALENCE AND INCIDENCE IN LYNCH SYNDROME BY GENE by 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

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Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers by 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

“…Several studies have reported the association of germline BRCA2 (gBRCA2) mutations with poor clinical outcomes in prostate cancer (PCa), but the impact of…”
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Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis by 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

“…Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by…”
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Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): Genotype and phenotype characteristics in a cohort of 197 patients by 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

“…Abstract only 1580 Background: HLRCC is a hereditary condition with autosomal dominant inheritance due to germline mutations in the fumarate-hydratase gene (…”
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PROREPAIR-A: Clinical and molecular characterization study of prostate cancer (PC) patients with and without previously known germline BRCA1/2 mutations by 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

“…Abstract only 5511 Background: Germline BRCA1/2 (g BRCA1/2) mutations are associated with poor clinical outcomes in PC. Previous studies showed that g BRCA2…”
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Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers by 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.

“…Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or…”
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