RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer von Cruz, C., Castroviejo-Bermejo, M., Gutiérrez-Enríquez, S., Llop-Guevara, A., Ibrahim, Y.H., Gris-Oliver, A., Bonache, S., Morancho, B., Bruna, A., Rueda, O.M., Lai, Z., Polanska, U.M., Jones, G.N., Kristel, P., de Bustos, L., Guzman, M., Rodríguez, O., Grueso, J., Montalban, G., Caratú, G., Mancuso, F., Fasani, R., Jiménez, J., Howat, W.J., Dougherty, B., Vivancos, A., Nuciforo, P., Serres-Créixams, X., Rubio, I.T., Oaknin, A., Cadogan, E., Barrett, J.C., Caldas, C., Baselga, J., Saura, C., Cortés, J., Arribas, J., Jonkers, J., Díez, O., O’Connor, M.J., Balmaña, J., Serra, V.

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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation von Castroviejo‐Bermejo, Marta, Cruz, Cristina, Llop‐Guevara, Alba, Gutiérrez‐Enríquez, Sara, Ducy, Mandy, Ibrahim, Yasir Hussein, Gris‐Oliver, Albert, Pellegrino, Benedetta, Bruna, Alejandra, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Bonache, Sandra, Moles‐Fernández, Alejandro, Villacampa, Guillermo, Viaplana, Cristina, Gómez, Patricia, Vidal, Maria, Peg, Vicente, Serres‐Créixams, Xavier, Dellaire, Graham, Simard, Jacques, Nuciforo, Paolo, Rubio, Isabel T, Dienstmann, Rodrigo, Barrett, J Carl, Caldas, Carlos, Baselga, José, Saura, Cristina, Cortés, Javier, Déas, Olivier, Jonkers, Jos, Masson, Jean‐Yves, Cairo, Stefano, Judde, Jean‐Gabriel, O'Connor, Mark J, Díez, Orland, Balmaña, Judith, Serra, Violeta

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(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer von Rosas, Juan C, Aguado-Barrera, Miguel E, Azria, David, Briers, Erik, Elliott, Rebecca, Farcy-Jacquet, Marie-Pierre, Giraldo, Alexandra, Gutiérrez-Enríquez, Sara, Rancati, Tiziana, Rattay, Tim, Reyes, Victoria, Rosenstein, Barry, De Ruysscher, Dirk, Sperk, Elena, Stobart, Hilary, Talbot, Christopher, Vega, Ana, Taboada-Valladares, Begoña, Veldeman, Liv, Ward, Tim, Webb, Adam, West, Catharine, Chang-Claude, Jenny, Seibold, Petra

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Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes von Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.

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Reply to: Comments on “(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer” von Rosas, Juan C., Aguado‐Barrera, Miguel E., Azria, David, Briers, Erik, Elliott, Rebecca, Farcy‐Jacquet, Marie‐Pierre, Giraldo, Alexandra, Gutiérrez‐Enríquez, Sara, Rancati, Tiziana, Rattay, Tim, Reyes, Victoria, Rosenstein, Barry, De Ruysscher, Dirk, Sperk, Elena, Stobart, Hilary, Talbot, Christopher, Vega, Ana, Taboada‐Valladares, Begoña, Veldeman, Liv, Ward, Tim, Webb, Adam, West, Catharine, Chang‐Claude, Jenny, Seibold, Petra

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

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Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes von Montalban, Gemma, Bonache, Sandra, Moles‐Fernández, Alejandro, Gadea, Neus, Tenés, Anna, Torres‐Esquius, Sara, Carrasco, Estela, Balmaña, Judith, Diez, Orland, Gutiérrez‐Enríquez, Sara

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BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge von Padilla, Natàlia, Moles‐Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez‐Enríquez, Sara, de la Cruz, Xavier

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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? von Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

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Risk factors for the development of cervical cancer: analysis of the evidence von Luvián-Morales, Julissa, Gutiérrez-Enríquez, Sandra Olimpia, Granados-García, Víctor, Torres-Poveda, Kirvis

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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants von Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, Cruz, Xavier, Díez, Orland, Gutiérrez‐Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier L., Mishne, Gilad, Moles‐Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O'Conner, Robert, Ootes, Lars, Özkan, 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.

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification von Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Reis, R. M.

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Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification von Pellegrino, Benedetta, Herencia-Ropero, Andrea, Llop-Guevara, Alba, Pedretti, Flaminia, Moles-Fernández, Alejandro, Viaplana, Cristina, Villacampa, Guillermo, Guzmán, Marta, Rodríguez, Olga, Grueso, Judit, Jiménez, Jose, Arenas, Enrique J, Degasperi, Andrea, Dias, João M L, Forment, Josep V, O'Connor, Mark J, Déas, Olivier, Cairo, Stefano, Zhou, Yinghui, Musolino, Antonino, Caldas, Carlos, Nik-Zainal, Serena, Clarke, Robert B, Nuciforo, Paolo, Díez, Orland, Serres-Créixams, Xavier, Peg, Vicente, Espinosa-Bravo, Martín, Macarulla, Teresa, Oaknin, Ana, Mateo, Joaquin, Arribas, Joaquín, Dienstmann, Rodrigo, Bellet, Meritxell, Oliveira, Mafalda, Saura, Cristina, Gutiérrez-Enríquez, Sara, Balmaña, Judith, Serra, Violeta

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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study von Montalban, Gemma, Fraile‐Bethencourt, Eugenia, López‐Perolio, Irene, Pérez‐Segura, Pedro, Infante, Mar, Durán, Mercedes, Alonso‐Cerezo, María Concepción, López‐Fernández, Adrià, Diez, Orland, la Hoya, Miguel, Velasco, Eladio A., Gutiérrez‐Enríquez, Sara

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes von Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara

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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 von Hernández, Gonzalo, Ramírez, María José, Minguillón, Jordi, Quiles, Paco, Ruiz de Garibay, Gorka, Aza-Carmona, Miriam, Bogliolo, Massimo, Pujol, Roser, Prados-Carvajal, Rosario, Fernández, Juana, García, Nadia, López, Adrià, Gutiérrez-Enríquez, Sara, Diez, Orland, Benítez, Javier, Salinas, Mónica, Teulé, Alex, Brunet, Joan, Radice, Paolo, Peterlongo, Paolo, Schindler, Detlev, Huertas, Pablo, Puente, Xose S, Lázaro, Conxi, Pujana, Miquel Àngel, Surrallés, Jordi

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods von Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E., Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A., Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K., Ly, Melissa, Neumann, Andrew J., Pal, Lipika R., Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C., Srinivasan, Rajgopal, Yee, Stephen F., Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A., Hosur, Raghavendra, Peng, Jian, Bernard, Brady M., Berry, Michael, Dong, Shengcheng, Boyle, Alan P., Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J., Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S., De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lars, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J., Wei, Qiong, Xu, Qifang, Dunbrack, Roland L., Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V., Makeev, Vsevolod J., Penzar, Dmitry D., Vorontsov, Ilya E., Favorov, Alexander V., Forman, Julia R., Hasenahuer, Marcia, Fornasari, Maria S., Parisi, Gustavo, Avsec, Ziga, Çelik, Muhammed H., Nguyen, Thi Yen Duong, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D., Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K., Göke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham R. S., Frankish, Adam, Mudge, Jonathan M., Harrow, Jennifer, Young, Erin L., Yu, Yao

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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings von Bonache, Sandra, Esteban, Irene, Moles-Fernández, Alejandro, Tenés, Anna, Duran-Lozano, Laura, Montalban, Gemma, Bach, Vanessa, Carrasco, Estela, Gadea, Neus, López-Fernández, Adrià, Torres-Esquius, Sara, Mancuso, Francesco, Caratú, Ginevra, Vivancos, Ana, Tuset, Noemí, Balmaña, Judith, Gutiérrez-Enríquez, Sara, Diez, Orland

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REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer von Seibold, Petra, Webb, Adam, Aguado-Barrera, Miguel E, Azria, David, Bourgier, Celine, Brengues, Muriel, Briers, Erik, Bultijnck, Renée, Calvo-Crespo, Patricia, Carballo, Ana, Choudhury, Ananya, Cicchetti, Alessandro, Claßen, Johannes, Delmastro, Elena, Dunning, Alison M, Elliott, Rebecca M, Fachal, Laura, Farcy-Jacquet, Marie-Pierre, Gabriele, Pietro, Garibaldi, Elisabetta, Gómez-Caamaño, Antonio, Gutiérrez-Enríquez, Sara, Higginson, Daniel S, Johnson, Kerstie, Lobato-Busto, Ramón, Mollà, Meritxell, Müller, Anusha, Payne, Debbie, Peleteiro, Paula, Post, Giselle, Rancati, Tiziana, Rattay, Tim, Reyes, Victoria, Rosenstein, Barry S, De Ruysscher, Dirk, De Santis, Maria Carmen, Schäfer, Jörg, Schnabel, Thomas, Sperk, Elena, Symonds, R. Paul, Stobart, Hilary, Taboada-Valladares, Begoña, Talbot, Christopher J, Valdagni, Riccardo, Vega, Ana, Veldeman, Liv, Ward, Tim, Weißenberger, Christian, West, Catharine M.L, Chang-Claude, Jenny

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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples von Fackenthal, James D, Yoshimatsu, Toshio, Zhang, Bifeng, de Garibay, Gorka R, Colombo, Mara, De Vecchi, Giovanna, Ayoub, Samantha C, Lal, Kumar, Olopade, Olufunmilayo I, Vega, Ana, Santamariña, Marta, Blanco, Ana, Wappenschmidt, Barbara, Becker, Alexandra, Houdayer, Claude, Walker, Logan C, López-Perolio, Irene, Thomassen, Mads, Parsons, Michael, Whiley, Phillip, Blok, Marinus J, Brandão, Rita D, Tserpelis, Demis, Baralle, Diana, Montalban, Gemma, Gutiérrez-Enríquez, Sara, Díez, Orland, Lazaro, Conxi, Spurdle, Amanda B, Radice, Paolo, de la Hoya, Miguel

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