Search Results - "Grau, Èlia"

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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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers by González-Acosta, Maribel, Marín, Fátima, Puliafito, Benjamin, Bonifaci, Nuria, Fernández, Anna, Navarro, Matilde, Salvador, Hector, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Grau Garces, Elia, Moreno, Victor, Gonzalez-Granado, Luis Ignacio, Guerra-García, Pilar, Ayala, Rosa, Florkin, Benoît, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A, Ragab, Iman, Nathrath, Michaela, Pander, Hans-Jürgen, Lobitz, Stephan, Suerink, Manon, Dahan, Karin, Imschweiler, Thomas, Demirsoy, Ugur, Brunet, Joan, Lázaro, Conxi, Rueda, Daniel, Wimmer, Katharina, Capellá, Gabriel, Pineda, Marta

“…Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency…”
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DGCR8 and the six hit, three-step model of schwannomatosis by Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, Lázaro, Conxi, Foulkes, William D., Brunet, Joan, Rivera, Barbara

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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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Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic by López-Fernández, Adrià, Villacampa, Guillermo, Grau, Elia, Salinas, Mónica, Darder, Esther, Carrasco, Estela, Torres-Esquius, Sara, Iglesias, Silvia, Solanes, Ares, Gadea, Neus, Velasco, Angela, Urgell, Gisela, Torres, Maite, Tuset, Noemí, Brunet, Joan, Corbella, Sergi, Balmaña, Judith

“…To identify predictors of patient acceptance of non-in-person cancer genetic visits before and after the COVID-19 pandemic and assess the preferences of…”
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BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort by Rofes, Paula, Del Valle, Jesús, Torres-Esquius, Sara, Feliubadaló, Lídia, Stradella, Agostina, Moreno-Cabrera, José Marcos, López-Doriga, Adriana, Munté, Elisabet, De Cid, Rafael, Campos, Olga, Cuesta, Raquel, Teulé, Álex, Grau, Èlia, Sanz, Judit, Capellá, Gabriel, Díez, Orland, Brunet, Joan, Balmaña, Judith, Lázaro, Conxi

“…Only a small fraction of hereditary breast and/or ovarian cancer (HBOC) cases are caused by germline variants in the high-penetrance breast cancer 1 and 2…”
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Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis by Quintana, Isabel, Mejías-Luque, Raquel, Terradas, Mariona, Navarro, Matilde, Piñol, Virginia, Mur, Pilar, Belhadj, Sami, Grau, Elia, Darder, Esther, Solanes, Ares, Brunet, Joan, Capellá, Gabriel, Gerhard, Markus, Valle, Laura

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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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Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome by Domènech, Marta, Grau, Elia, Solanes, Ares, Izquierdo, Angel, del Valle, Jesús, Carrato, Cristina, Pineda, Marta, Dueñas, Nuria, Pujol, Magda, Lázaro, Conxi, Capellà, Gabriel, Brunet, Joan, Navarro, Matilde

“…Abstract Context Lynch syndrome (LS) is the most common inherited colorectal and endometrial cancer syndrome, caused by germline mutations in DNA mismatch…”
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Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study by Llach, Joan, Luzko, Irina, Earl, Julie, Barreto, Emma, Rodríguez-Garrote, Mercedes, Lleixà, Marc, Herrera-Pariente, Cristina, Fernández, Guerau, Munoz, Jenifer, Bonjoch, Laia, Saurí, Tamara, Ausania, Fabio, Ocaña, Teresa, Moreno, Lorena, Grau, Elia, Oriola, Josep, Alvarez-Mora, Maria Isabel, Herreros-Villanueva, Marta, Castellví-Bel, Sergi, Balaguer, Francesc, Bujanda, Luis, Moreira, Leticia

“…Background: Pancreatic ductal adenocarcinoma (PDAC) is associated with a significant percentage of germline pathogenic variants (GPVs). Unlike in the United…”
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Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result by López‐Fernández, Adrià, Villacampa, Guillermo, Salinas, Mònica, Grau, Elia, Darder, Esther, Carrasco, Estela, Solanes, Ares, Velasco, Angela, Torres, Maite, Munté, Elisabet, Iglesias, Silvia, Torres‐Esquius, Sara, Tuset, Noemí, Diez, Orland, Lázaro, Conxi, Brunet, Joan, Corbella, Sergi, Balmaña, Judith

“…Clinical and familial factors predict psychological distress after genetic testing for cancer susceptibility. However, the contribution of an individual's…”
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RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS by Chong, Anne-Sophie, Nadaf, Javad, Grau, Elia, Apellaniz-Ruiz, Maria, Fahiminiya, Somayyeh, Saskin, Avi, Han, HyeRim, Turcotte, Robert, Muchantef, Karl, Thomas, Christian, Wagener, Rabea, Bassenden, Angelia, Mete, Ozgur, Pusztaszeri, Marc, Paulus, Werner, Berghuis, Albert, Siebert, Reiner, Albrecht, Steffen, Hasselblatt, Martin, Lazaro, Conxi, Teule, Alexander, Fabian, Marc, Brunet, Joan, Foulkes, William, Rivera, Barbara

“…Abstract Germline mutations in DICER1 cause a pleiotropic susceptibility syndrome characterized by the development of pediatric or early-onset tumors including…”
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Abstract 1549: The tumorigenesis model in DGCR8 associated schwannomatosis by Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, lazaro, Conxi, Foulkes, William D., Brunet, Joan, Polo, Bárbara Rivera

“…Abstract Purpose: Schwannomatosis is an inherited disorder that affects Schwann cells from peripheral nerves. It is diagnosed when multiple schwannomas occur…”
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Abstract P6-01-09: Efficacy of platinum-based chemotherapy and germline mutational status in early-stage triple-negative breast cancer: a unicenter retrospective analysis with long-term follow-up by Hernández, Adela Rodríguez, Conte, Benedetta, Fernández, Laia, Brasó-Maristany, Fara, Pastor, Belén, Potrony, Miriam, Moreno, Lorena, Grau, Elia, Puig-Butillé, Joan Antón, Sánchez, Aurora, González-Farré, Blanca, Sanfeliu, Esther, Martínez-Sáez, Olga, Falato, Claudette, Vidal, Maria, Chic, Nuria, Pascual, Tomás, Schettini, Francesco, Muñoz, Montserrat, Balaguer, Francesc, Prat, Aleix, Adamo, Barbara

“…Abstract BACKGROUND: In early-stage triple negative breast cancer (TNBC), the addition of carboplatin (CBDCA) to neoadjuvant chemotherapy (CT) increases…”
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DGCR8 and the six hit, three-step model of schwannomatosis by Nogué, Clara, Chong, Anne-Sophie, Grau, Elia, Han, HyeRim, Dorca, Eduard, Roca, Carla, Mosquera, Jose Luis, Lázaro, Conxi, Foulkes, William D, Brunet, Joan, Rivera, Barbara

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