Not logged inIdentifying germline pathogenic variants in breast cancer using tumor sequencing
Cruellas, Mara; Papakonstantinou, Andri; Lopez-Fernandez, Adria; Castillo, Ester; Matito, Judit; Gomez, Marina; Rezqallah, Alejandra; Vega, Sharela; Navarro, Victor; Torres, Maite; Moles-Fernandez, Alejandro; Saura, Cristina; Vivancos, Ana; Balmana, Judith; Oliveira, Mafalda .png)
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SaveSequence variants in HECTD1 result in a variable neurodevelopmental disorderZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A. Share Save SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish populationMoreno-Cabrera, Jose M.; Feliubadalo, Lidia; Pineda, Marta; Prada-Dacasa, Patricia; Ramos-Muntada, Mireia; Del Valle, Jesus; Brunet, Joan; Gel, Bernat; Curras-Freixes, Maria; Calsina, Bruna; Salazar-Hidalgo, Milton E.; Rodriguez-Balada, Marta; Roig, Barbara; Fernandez-Castillejo, Sara; Duran Dominguez, Mercedes; Arranz Ledo, Monica; Infante Sanz, Mar; Castillejo, Adela; Damaso, Estela; Soto, Jose L.; de Miguel, Montserrat; Hidalgo Calero, Beatriz; Sanchez-Zapardiel, Jose M.; Ramon Y Ramon, Teresa; Lasa, Adriana; Gisbert-Beamud, Alexandra; Lopez-Novo, Anael; Ruiz-Ponte, Clara; Potrony, Miriam; Alvarez-Mora, Maria, I; Osorio, Ana; Lorda-Sanchez, Isabel; Robledo, Mercedes; Cascon, Alberto; Ruiz, Anna; Spataro, Nino; Hernan, Imma; Borras, Emma; Moles-Fernandez, Alejandro; Earl, Julie; Cadinanos, Juan; Sanchez-Heras, Ana B.; Bigas, Anna; Capella, Gabriel; Lazaro, Conxi Share Save A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical AnalysisPorras, Luz-Marina; Padilla, Natalia; Moles-Fernandez, Alejandro; Feliubadalo, Lidia; Santamarina-Pena, Marta; Sanchez, Alysson T.; Lopez-Novo, Anael; Blanco, Ana; de la Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz-Ponte, Clara; Vega, Ana; Lazaro, Conxi; Diez, Orland; Gutierrez-Enriquez, Sara; de la Cruz, Xavier Share Save An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family historyCodina-Sola, Marta; Trujillano, Laura; Abuli, Anna; Rovira-Moreno, Eulalia; Munoz-Cabello, Patricia; Campos, Berta; Fernandez-alvarez, Paula; Palau, Dolors; Carrasco, Estela; Valenzuela, Irene; Cueto-Gonzalez, Anna Maria.; Lasa-Aranzasti, Amaia; Limeres, Javier; Leno-Colorado, Jordi; Costa-Roger, Mar; Moles-Fernandez, Alejandro; Balmana, Judith; Diez, Orland; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel Share Save Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient StratificationPellegrino, Benedetta; Herencia-Ropero, Andrea; Llop-Guevara, Alba; Pedretti, Flaminia; Moles-Fernandez, Alejandro; Viaplana, Cristina; Villacampa, Guillermo; Guzman, Marta; Rodriguez, Olga; Grueso, Judit; Jimenez, Jose; Arenas, Enrique J.; Degasperi, Andrea; Dias, Joao M. L.; Forment, Josep, V; O'Connor, Mark J.; Deas, Olivier; Cairo, Stefano; Zhou, Yinghui; Musolino, Antonino; Caldas, Carlos; Nik-Zainal, Serena; Clarke, Robert B.; Nuciforo, Paolo; Diez, Orland; Serres-Creixams, Xavier; Peg, Vicente; Espinosa-Bravo, Martin; Macarulla, Teresa; Oaknin, Ana; Mateo, Joaquin; Arribas, Joaquin; Dienstmann, Rodrigo; Bellet, Meritxell; Oliveira, Mafalda; Saura, Cristina; Gutierrez-Enriquez, Sara; Balmana, Judith; Serra, Violeta Share Save Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjectsLi, Na; Zethoven, Magnus; McInerny, Simone; Devereux, Lisa; Huang, Yu-Kuan; Thio, Niko; Cheasley, Dane; Gutierrez-Enriquez, Sara; Moles-Fernandez, Alejandro; Diez, Orland; Nguyen-Dumont, Tu; Southey, Melissa C.; Hopper, John L.; Simard, Jacques; Dumont, Martine; Soucy, Penny; Meindl, Alfons; Schmutzler, Rita; Schmidt, Marjanka K.; Adank, Muriel A.; Andrulis, Irene L.; Hahnen, Eric; Engel, Christoph; Lesueur, Fabienne; Girard, Elodie; Neuhausen, Susan L.; Ziv, Elad; Allen, Jamie; Easton, Douglas F.; Scott, Rodney J.; Gorringe, Kylie L.; James, Paul A.; Campbell, Ian G. Share Save A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer PatientsFeliubadalo, Lidia; Moles-Fernandez, Alejandro; Santamarina-Pena, Marta; Sanchez, Alysson T.; Lopez-Novo, Anael; Porras, Luz-Marina; Blanco, Ana; Capella, Gabriel; de la Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; de la Cruz, Xavier; Diez, Orland; Ruiz-Ponte, Clara; Gutierrez-Enriquez, Sara; Vega, Ana; Lazaro, Conxi Share Save Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsCline, Melissa S.; Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; de la Cruz, Xavier; Diez, Orland; Gutierrez-Enriquez, Sara; Katsonis, Panagiotis; Lai, Carmen; Lichtarge, Olivier; Martelli, Pier L.; Mishne, Gilad; Moles-Fernandez, Alejandro; Montalban, Gemma; Mooney, Sean D.; O'Conner, Robert; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Pagel, Kymberleigh A.; Pejaver, Vikas; Radivojac, Predrag; Riera, Casandra; Savojardo, Castrense; Shen, Yang; Sun, Yuanfei; Topper, Scott; Parsons, Michael T.; Spurdle, Amanda B.; Goldgar, David E. Share Save BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengePadilla, Natalia; Moles-Fernandez, Alejandro; Riera, Casandra; Montalban, Gemma; Ozkan, Selen; Ootes, Lars; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; de la Cruz, Xavier Share Save Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationParsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Capone, Gabriele L.; Caputo, Sandrine M.; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M.; Concolino, Paola; Cops, Elisa J.; Cortesi, Laura; Couch, Fergus J.; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; Eccles, Diana M.; Ehrencrona, Hans; Enders, Ute; Evans, D. Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D.; Galvao, Henrique Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina; Kiechle, Marion; Koelbl, Alexandra; Krieger, Sophie; Kruse, Torben A.; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L.; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L.; Lim, Joanna; Loeffler, Markus; Lopez-Fernandez, Adria; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles-Fernandez, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N.; Montes, Eva; Mori, Luigi; Moserle, Lidia; Mueller, Clemens R.; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L.; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B.; Niederacher, Dieter; Nielsen, Henriette R.; Ong, Kai-ren; Pachter, Nicholas; Palmero, Edenir, I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K.; Porfirio, Berardino; Quante, Anne S.; Ramser, Juliane; Reis, Rui M.; Revillion, Francoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sanchez de Abajo, Ana Maria; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiss, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean, V; Teo, Soo H.; Teule, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Torngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H.; Tucker, Katherine M.; van Asperen, Christi J.; van Mackelenbergh, Marion T.; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Angela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P. G.; Wagner, Sebastian A.; Waha, Anke; Walker, Logan C.; Walters, Rhiannon J.; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Weichert, Wilko; Wieland, Kerstin; Wiesmueller, Lisa; Witzel, Isabell; Woeckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder-Goss, Christine; Lazaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E.; Spurdle, Amanda B. Share Save Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genesMontalban, Gemma; Bonache, Sandra; Moles-Fernandez, Alejandro; Gadea, Neus; Tenes, Anna; Torres-Esquius, Sara; Carrasco, Estela; Balmana, Judith; Diez, Orland; Gutierrez-Enriquez, Sara Share Save Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panelsFeliubadalo, Lidia; Lopez-Fernandez, Adria; Pineda, Marta; Diez, Orland; del Valle, Jesus; Gutierrez-Enriquez, Sara; Teule, Alex; Gonzalez, Sara; Stjepanovic, Neda; Salinas, Monica; Capella, Gabriel; Brunet, Joan; Lazaro, Conxi; Balmana, Judith; Campos, Olga; Carrasco, Estela; Cuesta, Raquel; Darder, Esther; Gadea, Neus; Gomez, Carolina; Grau, Elia; Iglesias, Silvia; Izquierdo, Angel; Llort, Gemma; Menendez, Mireia; Moles-Fernandez, Alejandro; Montes, Eva; Munoz, Xavier; Navarro, Matilde; Ramon y Cajal, Teresa; Sanz, Judit; Solanes, Ares; Stradella, Agostina; Tornero, Eva; Torres-Esquius, Sara; Tuset, Noemi; Urgell, Gisela; Velasco, Angela Share Save Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>TDuran-Lozano, Laura; Montalban, Gemma; Bonache, Sandra; Moles-Fernandez, Alejandro; Tenes, Anna; Castroviejo-Bermejo, Marta; Carrasco, Estela; Lopez-Fernandez, Adria; Torres-Esquius, Sara; Gadea, Neus; Stjepanovic, Neda; Balmana, Judith; Gutierrez-Enriquez, Sara; Diez, Orland Share Save Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancerMontalban, Gemma; Bonache, Sandra; Moles-Fernandez, Alejandro; Gisbert-Beamud, Alexandra; Tenes, Anna; Bach, Vanessa; Carrasco, Estela; Lopez-Fernandez, Adria; Stjepanovic, Neda; Balmana, Judith; Diez, Orland; Gutierrez-Enriquez, Sara Share Save A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutationCastroviejo-Bermejo, Marta; Cruz, Cristina; Llop-Guevara, Alba; Gutierrez-Enriquez, Sara; Ducy, Mandy; Hussein Ibrahim, Yasir; Gris-Oliver, Albert; Pellegrino, Benedetta; Bruna, Alejandra; Guzman, Marta; Rodriguez, Olga; Grueso, Judit; Bonache, Sandra; Moles-Fernandez, Alejandro; Villacampa, Guillermo; Viaplana, Cristina; Gomez, Patricia; Vidal, Marc; Peg, Vicente; Serres-Creixams, Xavier; Dellaire, Graham; Simard, Jacques; Nuciforo, Paolo; Rubio, Isabel T.; Dientsmann, Rodrigo; Barrett, J. Carl; Caldas, Carlos; Baselga, Jose; Saura, Cristina; Cortes, Javier; Deas, Olivier; Jonkers, Jos; Masson, Jean-Yves; Cairo, Stefano; Judde, Jean-Gabriel; O'Connor, Mark J.; Diez, Orland; Balmana, Judith; Serra, Violeta Share Save BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingBurke, Leslie J.; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J.; Shirley, Ben C.; Whiley, Phillip; Parsons, Michael T.; De Leeneer, Kim; Gutierrez-Enriquez, Sara; Santamarina, Marta; Caputo, Sandrine M.; dos Santos, Elizabeth Santana; Soukupova, Jana; Janatova, Marketa; Zemankova, Petra; Lhotova, Klara; Stolarova, Lenka; Borecka, Mariana; Moles-Fernandez, Alejandro; Manoukian, Siranoush; Bonanni, Bernardo; Edwards, Stacey L.; Blok, Marinus J.; Hansen, Thomas van Overeem; Rossing, Maria; Diez, Orland; Vega, Ana; Claes, Kathleen B. M.; Goldgar, David E.; Rouleau, Etienne; Radice, Paolo; Peterlongo, Paolo; Rogan, Peter K.; Caligo, Maria; Spurdle, Amanda B.; Brown, Melissa A. Share Save 
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