未登录 RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium RNA剪接证据能够实现BRCA1外显子18变异的稳健分类：ENIGMA联盟的研究结果 Domenech-Vivo, Joanna; Tubeuf, Helene; Mesman, Romy L. S.; Drouet, Aurelie; Girardi, Melanie; Alonso-Cerezo, Maria Concepcion; Baralle, Diana; Boutry-Kryza, Nadia; Bunyan, David J.; Byers, Helen J.; Caputo, Sandrine M.; Claes, Kathleen B. M.; De la Hoya, Miguel; Evans, D. Gareth; Fresard, Laure; Krieger, Sophie; Lazaro, Conxi; Leone, Melanie; Machackova, Eva; Menendez, Mireia; Moles-Fernandez, Alejandro; Montalban, Gemma; Mundt, Erin; Richardson, Marcy E.; Van Veen, Elke M.; Weyandt, Jamie; Balmana, Judith; Spurdle, Amanda B.; Diez, Orland; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gutierrez-Enriquez, Sara 分享 收藏
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A randomized study of 2 risk assessment models for individualized breast cancer risk estimation 一项关于个体化乳腺癌风险评估的两种风险评估模型随机研究 Lopez-Fernandez, Adria; Duran-Lozano, Laura; Villacampa, Guillermo; Pardo, Monica; Perez, Eduard; Darder, Esther; Vallmajo, Anna; Alfonso, Rosa; Cruellas, Mara; Roque, Ariadna; Cartro, Mireia; Bareas, Adriana; Carrasco, Estela; Rezqallah, Alejandra; Jimenez-Macedo, Ana Raquel; Torres-Esquius, Sara; Torres, Maite; Lopez, Consol; Espinosa, Martin; Teule, Alex; Munte, Elisabet; Tuset, Noemi; Diez, Orland; Feliubadalo, Lidia; Lazaro, Conxi; Llort, Gemma; Carver, Tim; Ficorella, Lorenzo; Mavaddat, Nasim; Mercade, Anna; Antoniou, Antonis C.; Brunet, Joan; Ramon y Cajal, Teresa 分享 收藏
Detection of germline CNVs from gene panel data: benchmarking the state of the art Munte, Elisabet; Roca, Carla; Del Valle, Jesus; Feliubadalo, Lidia; Pineda, Marta; Gel, Bernat; Castellanos, Elisabeth; Rivera, Barbara; Cordero, David; Moreno, Victor; Lazaro, Conxi; Moreno-Cabrera, Jose Marcos 分享 收藏
Lessons learned from a pan-cancer exploratory Liquid Biopsy (LB) profiling: the PREICO-LB project Hierro, C.; Notario, L.; Bergamino, M.; Sabat, P.; Soto-Castillo, J. J.; Calvo, M.; Oliva, M.; Jove, M.; Ruffinelli, J. C.; Mosteiro, M. A.; Ochoa de Olza, M.; Carcereny, E.; Balana, D.; Gonzalez, M. I.; Fina, C.; Gil-Martin, M.; Nadal, E.; Azuara, D.; Lazaro, C.; Martin-Liberal, J. 分享 收藏
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data Munte, Elisabet; Feliubadalo, Lidia; Del Valle, Jesus; Gonzalez, Sara; Ramos-Muntada, Mireia; Balmana, Judith; Ramon y Caja, Teresa; Tuset, Noemi; Llort, Gemma; Cadinanos, Juan; Brunet, Joan; Capella, Gabriel; Lazaro, Conxi; Pineda, Marta 分享 收藏
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population Moreno-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 分享 收藏
CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions Herrera-Pariente, Cristina; Bonjoch, Laia; Munoz, Jenifer; Fernandez, Guerau; de Lima, Yasmin Soares; Mahmood, Romesa; Cuatrecasas, Miriam; Ocana, Teresa; Lopez-Prades, Sandra; Llargues-Sistac, Gemma; Dominguez-Rovira, Xavier; Llach, Joan; Luzko, Irina; Diaz-Gay, Marcos; Lazaro, Conxi; Brunet, Joan; Castillo-Manzano, Carmen; Garcia-Gonzalez, Maria Asuncion; Lanas, Angel; Carrillo, Marta; San Gil, Raquel Hernandez; Quintero, Enrique; Sala, Nuria; Llort, Gemma; Aguilera, Lara; Carot, Laura; Diez-Redondo, Pilar; Jover, Rodrigo; Ramon y Cajal, Teresa; Cubiella, Joaquin; Castells, Antoni; Balaguer, Francesc; Bujanda, Luis; Castellvi-Bel, Sergi; Moreira, Leticia 分享 收藏
ESGO-ESMO-ESP consensus conference recommendations on ovarian cancer: pathology and molecular biology and early, advanced and recurrent disease ESGO-ESMO-ESP共识会议关于卵巢癌的建议: 病理学和分子生物学以及早期，晚期和复发性疾病 Ledermann, J. A.; Matias-Guiu, X.; Amant, F.; Concin, N.; Davidson, B.; Fotopoulou, C.; Gonzalez-Martin, A.; Gourley, C.; Leary, A.; Lorusso, D.; Banerjee, S.; Chiva, L.; Cibula, D.; Colombo, N.; Croce, S.; Eriksson, A. G.; Falandry, C.; Fischerova, D.; Harter, P.; Joly, F.; Lazaro, C.; Lok, C.; Mahner, S.; Marme, F.; Marth, C.; McCluggage, W. G.; Mcneish, I. A.; Morice, P.; Nicum, S.; Oaknin, A.; Perez-Fidalgo, J. A.; Pignata, S.; Ramirez, P. T.; Ray-Coquard, I.; Romero, I.; Scambia, G.; Sehouli, J.; Shapira-Frommer, R.; Sundar, S.; Tan, D. S. P.; Taskiran, C.; van Driel, W. J.; Vergote, I.; Planchamp, F.; Sessa, C.; Fagotti, A. 分享 收藏
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome 遗传性平滑肌瘤病和肾细胞癌综合征家族中新型FH创始人突变的遗传和临床特征 Sanchez-Heras, Ana Beatriz; Damaso, Estela; Castillejo, Adela; Robledo, Mercedes; Teule, Alexandre; Lazaro, Conxi; Sanchez-Martinez, Rosario; Zuniga, Angel; Lopez-Fernandez, Adria; Balmana, Judith; Robles, Luis; Ramon y Cajal, Teresa; Castillejo, M. Isabel; Ibanez, Raquel Perea; Sevila, Carmen Martinez; Sanchez-Mira, Andrea; Escandell, Ines; Gomez, Luis; Berbel, Pere; Soto, Jose Luis 分享 收藏
Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas Mazuelas, Helena; Magallon-Lorenz, Miriam; Uriarte-Arrazola, Itziar; Negro, Alejandro; Rosas, Inma; Blanco, Ignacio; Castellanos, Elisabeth; Lazaro, Conxi; Gel, Bernat; Carrio, Meritxell; Serra, Eduard 分享 收藏
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis Porras, 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 分享 收藏
Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre Mosteiro, M.; Azuara, D.; Villatoro, S.; Alay, A.; Gausachs, M.; Varela, M.; Baixeras, N.; Pijuan, L.; Ajenjo-Bauza, M.; Lopez-Doriga, A.; Teule, A.; Solanes, A.; Palmero, R.; Brenes, J.; Jove, M.; Padrones, S.; Moreno, V.; Cordero, D.; Matias-Guiu, X.; Lazaro, C.; Nadal, E. 分享 收藏
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Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient-derived orthotopic xenografts, cell lines and tumor entities Creus-Bachiller, Edgar; Fernandez-Rodriguez, Juana; Magallon-Lorenz, Miriam; Ortega-Bertran, Sara; Navas-Rutete, Susana; Romagosa, Cleofe; Silva, Tulio M.; Pane, Maria; Estival, Anna; Sidelnikova, Diana Perez; Morell, Mireia; Mazuelas, Helena; Carrio, Meritxell; Lausova, Tereza; Reuss, David; Gel, Bernat; Villanueva, Alberto; Serra, Eduard; Lazaro, Conxi 分享 收藏
Real-world results of homologous recombination deficiency testing: Comparison between two methods on 2,655 ovarian cancer patients in Spain Lazaro, C.; Jantus Lewintre, E.; Zazo, S.; Perez, S.; Carvajal Garcia, N.; Azuara, D.; Gonzalez Acosta, M.; Varela, M.; Torres-Martinez, S.; Gallach Garcia, S.; Colomar, M.; Sanchez Ares, M.; Perez-Becerra, R.; Antunez, J. R.; Orellana, M.; Lencina, M.; Abdulkader Nallib, I.; Camps Herrero, C. J. C.; Matias-Guiu, X.; Rojo, F. 分享 收藏
Implementation of a molecular pre-screening program (MPP) in a network of public cancer centres for phase I clinical trial (Ph1-CT) candidates: The PREICO program Castillo, J. J. Soto; Rincon, L. Notario; Azuara, D.; Ruffinelli, J. C.; Stradella, A.; Bernal, M. Oliva; Campos, M. Calvo; Jove, M.; Serna, S. Llop; Vazquez, R. Villanueva; Amor, C. Cuadra; Bergamino, M. A.; Vila, E. Teixidor; Gomez, S. Villatoro; Acosta, M. Gonzalez; Planas, C. Fina; Hierro, C.; Martin, M. Gil; Lazaro, C.; Martin-Liberal, J. 分享 收藏
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 卵巢癌病理特征是BRCA1和BRCA2变异致病性的预测因子 O'Mahony, Denise G.; Ramus, Susan J.; Southey, Melissa C.; Meagher, Nicola S.; Hadjisavvas, Andreas; John, Esther M.; Hamann, Ute; Imyanitov, Evgeny N.; Andrulis, Irene L.; Sharma, Priyanka; Daly, Mary B.; Hake, Christopher R.; Weitzel, Jeffrey N.; Jakubowska, Anna; Godwin, Andrew K.; Arason, Adalgeir; Bane, Anita; Simard, Jacques; Soucy, Penny; Caligo, Maria A.; Mai, Phuong L.; Claes, Kathleen B. M.; Teixeira, Manuel R.; Chung, Wendy K.; Lazaro, Conxi; Hulick, Peter J.; Toland, Amanda E.; Pedersen, Inge Sokilde; Neuhausen, Susan L.; Vega, Ana; de la Hoya, Miguel; Nevanlinna, Heli; Dhawan, Mallika; Zampiga, Valentina; Danesi, Rita; Varesco, Liliana; Gismondi, Viviana; Vellone, Valerio Gaetano; James, Paul A.; Janavicius, Ramunas; Nikitina-Zake, Liene; Nielsen, Finn Cilius; van Overeem Hansen, Thomas; Pejovic, Tanja; Borg, Ake; Rantala, Johanna; Offit, Kenneth; Montagna, Marco; Nathanson, Katherine L.; Domchek, Susan M.; Osorio, Ana; Garcia, Maria J.; Karlan, Beth Y.; De Fazio, Anna; Bowtell, David; McGuffog, Lesley; Leslie, Goska; Parsons, Michael T.; Doerk, Thilo; Speith, Lisa-Marie; dos Santos, Elizabeth Santana; da Costa, Alexandre Andre B. A.; Radice, Paolo; Peterlongo, Paolo; Papi, Laura; Engel, Christoph; Hahnen, Eric; Schmutzler, Rita K.; Wappenschmidt, Barbara; Easton, Douglas F.; Tischkowitz, Marc; Singer, Christian F.; Tan, Yen Yen; Whittemore, Alice S.; Sieh, Weiva; Brenton, James D.; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Soukupova, Jana; Vocka, Michal; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Antoniou, Antonis C.; Goldgar, David E.; Spurdle, Amanda B.; Michailidou, Kyriaki; Mourits, Marian J. E.; Lesueur, Fabienne 分享 收藏
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach 临床，剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用 Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban-Sanchez, Ada; Tudini, Emma; Torngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Moller, Pal; Borg, Ake; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christian F.; Muhr, Daniela; Santamarina, Marta; Brandao, Rita; Andresen, Brage S.; Feng, Bing-Jian; Canson, Daffodil; Richardson, Marcy E.; Karam, Rachid; Pesaran, Tina; LaDuca, Holly; Conner, Blair R.; Abualkheir, Nelly; Hoang, Lily; Calleja, Fabienne M. G. R.; Andrews, Lesley; James, Paul A.; Bunyan, Dave; Hamblett, Amanda; Radice, Paolo; Goldgar, David E.; Walker, Logan C.; Engel, Christoph; Claes, Kathleen B. M.; Machackova, Eva; Baralle, Diana; Viel, Alessandra; Wappenschmidt, Barbara; Lazaro, Conxi; Vega, Ana; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Spurdle, Amanda B. 分享 收藏
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