Evaluation of CNV detection tools for NGS panel data in genetic diagnostics von Moreno-Cabrera, José Marcos, Del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat

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Attenuation of RNA polymerase II pausing mitigates BRCA1-associated R-loop accumulation and tumorigenesis von Zhang, Xiaowen, Chiang, Huai-Chin, Wang, Yao, Zhang, Chi, Smith, Sabrina, Zhao, Xiayan, Nair, Sreejith J., Michalek, Joel, Jatoi, Ismail, Lautner, Meeghan, Oliver, Boyce, Wang, Howard, Petit, Anna, Soler, Teresa, Brunet, Joan, Mateo, Francesca, Angel Pujana, Miguel, Poggi, Elizabeth, Chaldekas, Krysta, Isaacs, Claudine, Peshkin, Beth N., Ochoa, Oscar, Chedin, Frederic, Theoharis, Constantine, Sun, Lu-Zhe, Curiel, Tyler J., Elledge, Richard, Jin, Victor X., Hu, Yanfen, Li, Rong

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Metformin Is a Direct SIRT1-Activating Compound: Computational Modeling and Experimental Validation von Cuyàs, Elisabet, Verdura, Sara, Llorach-Parés, Laura, Fernández-Arroyo, Salvador, Joven, Jorge, Martin-Castillo, Begoña, Bosch-Barrera, Joaquim, Brunet, Joan, Nonell-Canals, Alfons, Sanchez-Martinez, Melchor, Menendez, Javier A

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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes von Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D Gareth

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MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome von Wiik, Mariann Unhjem, Negline, Mia, Beisvåg, Vidar, Clapham, Matthew, Holliday, Elizabeth, Dueñas, Nuria, Brunet, Joan, Pineda, Marta, Bonifaci, Nuria, Aretz, Stefan, Klinkhammer, Hannah, Spier, Isabel, Perne, Claudia, Mayr, Andreas, Valle, Laura, Lubinski, Jan, Sjursen, Wenche, Scott, Rodney J., Talseth-Palmer, Bente A.

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RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant von Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, de Cid, Rafael, Gómez, Carolina, Montes, Eva, Capellá, Gabriel, Brunet, Joan, del Valle, Jesús, Lázaro, Conxi

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Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes von Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, Sara, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi

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Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study von Pla-Juher, Helena, Pardo, Marta, Izquierdo, Àngel J., Darder, Esther, Carbó, Anna, Munté, Elisabet, Torres-Esquius, Sara, Balmaña, Judith, Lázaro, Concepción, Brunet, Joan M., Barretina-Ginesta, Maria-Pilar

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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence von Hassanin, Emadeldin, Spier, Isabel, Bobbili, Dheeraj R, Aldisi, Rana, Klinkhammer, Hannah, David, Friederike, Dueñas, Nuria, Hüneburg, Robert, Perne, Claudia, Brunet, Joan, Capella, Gabriel, Nöthen, Markus M, Forstner, Andreas J, Mayr, Andreas, Krawitz, Peter, May, Patrick, Aretz, Stefan, Maj, Carlo

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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome von Tischkowitz, Marc, Colas, Chrystelle, Pouwels, Sjaak, Hoogerbrugge, Nicoline

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Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis von Vargas-Parra, Gardenia M, González-Acosta, Maribel, Thompson, Bryony A, Gómez, Carolina, Fernández, Anna, Dámaso, Estela, Pons, Tirso, Morak, Monika, Del Valle, Jesús, Iglesias, Silvia, Velasco, Àngela, Solanes, Ares, Sanjuan, Xavier, Padilla, Natàlia, de la Cruz, Xavier, Valencia, Alfonso, Holinski-Feder, Elke, Brunet, Joan, Feliubadaló, Lídia, Lázaro, Conxi, Navarro, Matilde, Pineda, Marta, Capellá, Gabriel

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Occupational exposure to pesticides and endometrial cancer in the Screenwide case-control study von Peñalver-Piñol, Arnau, Benavente, Yolanda, Frias-Gomez, Jon, Alguacil, Juan, Santibañez, Miguel, Contreras-Llanes, Manuel, Peremiquel-Trillas, Paula, López-Querol, Marta, Paytubi, Sonia, Pelegrina, Beatriz, Onieva, Irene, Martínez, José Manuel, Fernandez-Gonzalez, Sergi, Francisco, Javier de, Caño, Víctor, Brunet, Joan, Pineda, Marta, Ponce, Jordi, Matias-Guiu, Xavier, Bosch, Francesc Xavier, Sanjosé, Silvia de, Alemany, Laia, Costas, Laura

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Olive oil's bitter principle reverses acquired autoresistance to trastuzumab (Herceptin) in HER2-overexpressing breast cancer cells von Menendez, Javier A, Vazquez-Martin, Alejandro, Colomer, Ramon, Brunet, Joan, Carrasco-Pancorbo, Alegria, Garcia-Villalba, Rocio, Fernandez-Gutierrez, Alberto, Segura-Carretero, Antonio

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Biological basis of extensive pleiotropy between blood traits and cancer risk von Pardo-Cea, Miguel Angel, Farré, Xavier, Esteve, Anna, Palade, Joanna, Espín, Roderic, Mateo, Francesca, Alsop, Eric, Alorda, Marc, Blay, Natalia, Baiges, Alexandra, Shabbir, Arzoo, Comellas, Francesc, Gómez, Antonio, Arnan, Montserrat, Teulé, Alex, Salinas, Monica, Berrocal, Laura, Brunet, Joan, Rofes, Paula, Lázaro, Conxi, Conesa, Miquel, Rojas, Juan Jose, Velten, Lars, Fendler, Wojciech, Smyczynska, Urszula, Chowdhury, Dipanjan, Zeng, Yong, He, Housheng Hansen, Li, Rong, Van Keuren-Jensen, Kendall, de Cid, Rafael, Pujana, Miquel Angel

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Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome von Gonzalez-Abuin, Noemi, Pons, Tirso, Fuster, Teresa, Quintana, Isabel, Terradas, Mariona, Aiza, Gemma, Brunet, Joan, Capellá, Gabriel, Hampel, Heather, Valle, Laura

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MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study von GAUSACHS, Mireia, MUR, Pilar, GRUBER, Stephen B, LAZARO, Conxi, BLANCO, Ignacio, CAPELLA, Gabriel, CORRAL, Julieta, PINEDA, Marta, GONZALEZ, Sara, BENITO, Llúcia, MENENDEZ, Mireia, ALFONS ESPINAS, Josep, BRUNET, Joan, INIESTA, María Dolores

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Clinical Management of COVID-19 in Cancer Patients with the STAT3 Inhibitor Silibinin von Bosch-Barrera, Joaquim, Roqué, Ariadna, Teixidor, Eduard, Carmona-Garcia, Maria Carmen, Arbusà, Aina, Brunet, Joan, Martin-Castillo, Begoña, Cuyàs, Elisabet, Verdura, Sara, Menendez, Javier A

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Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation von Rofes, Paula, Dueñas, Núria, Valle, Jesús, Navarro, Matilde, Balmaña, Judith, Ramón y Cajal, Teresa, Tuset, Noemí, Castillo, Carmen, González, Sara, Brunet, Joan, Capellá, Gabriel, Lázaro, Conxi, Pineda, Marta

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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases von 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

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Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report von Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., Møller, Pål

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