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1
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The breast cancer low‐penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

Osorio, Ana ; Rodríguez‐López, Raquel ; Díez, Orland ; De La Hoya, Miguel ; Ignacio Martínez, José ; Vega, Ana ; Esteban‐Cardeñosa, Eva ; Alonso, Carmen ; Caldés, Trinidad ; Benítez, Javier

International Journal of Cancer, 01 January 2004, Vol.108(1), pp.54-56 [Rivista Peer Reviewed]

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A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylation

Alvarez, Sara ; Diaz-Uriarte, Ramon ; Osorio, Ana ; Barroso, Alicia ; Melchor, Lorenzo ; Paz, Maria Fe ; Honrado, Emiliano ; Rodríguez, Raquel ; Urioste, Miguel ; Valle, Laura ; Díez, Orland ; Cigudosa, Juan Cruz ; Dopazo, Joaquin ; Esteller, Manel ; Benitez, Javier

Clinical cancer research : an official journal of the American Association for Cancer Research, 01 February 2005, Vol.11(3), pp.1146-53 [Rivista Peer Reviewed]

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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco, Ignacio ; Kuchenbaecker, Karoline ; Cuadras, Daniel ; Wang, Xianshu ; Barrowdale, Daniel ; De Garibay, Gorka Ruiz ; Librado, Pablo ; Sánchez-Gracia, Alejandro ; Rozas, Julio ; Bonifaci, Núria ; Mcguffog, Lesley ; Pankratz, Vernon S ; Islam, Abul ; Mateo, Francesca ; Berenguer, Antoni ; Petit, Anna ; Català, Isabel

PloS one, 2015, Vol.10(4), pp.e0120020 [Rivista Peer Reviewed]

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The variant E233G of the RAD51D gene could be a low‐penetrance allele in high‐risk breast cancer families without BRCA1/2 mutations

Rodríguez‐López, Raquel ; Osorio, Ana ; Ribas, Gloria ; Pollán, Marina ; Sánchez‐Pulido, Luis ; De La Hoya, Miguel ; Ruibal, Álvaro ; Zamora, Pilar ; Arias, Jose Ignacio ; Salazar, Raquel ; Vega, Ana ; Martínez, Jose Ignacio ; Esteban‐Cardeñosa, Eva ; Alonso, Carmen ; Letón, Rocío ; Urioste Azcorra, Miguel ; Miner, Cristina ; Armengod, M. Eugenia ; Carracedo, Angel ; González‐Sarmiento, Rogelio ; Caldés, Trinidad ; Díez, Orland ; Benítez, Javier

International Journal of Cancer, 20 July 2004, Vol.110(6), pp.845-849 [Rivista Peer Reviewed]

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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, Karoline B ; Mcguffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Soucy, Penny ; Healey, Sue ; Dennis, Joe ; Lush, Michael ; Robson, Mark ; Spurdle, Amanda B ; Ramus, Susan J ; Mavaddat, Nasim ; Terry, Mary Beth ; Neuhausen, Susan L ; Hamann, Ute ; Southey, Melissa ; John, Esther M ; Chung, Wendy K ; Daly, Mary B ; Buys, Saundra S ; Goldgar, David E ; Dorfling, Cecilia M ; Van Rensburg, Elizabeth J ; Ding, Yuan Chun ; Ejlertsen, Bent ; Gerdes, Anne - Marie ; Hansen, Thomas V. O ; Slager, Susan ; Hallberg, Emily ; Benitez, Javier ; Osorio, Ana ; Cohen, Nancy ; Lawler, William ; Weitzel, Jeffrey N ; Peterlongo, Paolo ; Pensotti, Valeria ; Dolcetti, Riccardo ; Barile, Monica ; Bonanni, Bernardo ; Azzollini, Jacopo ; Manoukian, Siranoush ; Peissel, Bernard ; Radice, Paolo ; Savarese, Antonella ; Papi, Laura ; Giannini, Giuseppe ; Fostira, Florentia ; Konstantopoulou, Irene ; Adlard, Julian ; Brewer, Carole ; Cook, Jackie ; Davidson, Rosemarie ; Eccles, Diana ; Eeles, Ros ; Ellis, Steve ; Frost, Debra ; Hodgson, Shirley ; Izatt, Louise ; Lalloo, Fiona ; Ong, Kai - Ren ; Godwin, Andrew K ; Arnold, Norbert ; Dworniczak, Bernd ; Engel, Christoph ; Gehrig, Andrea ; Hahnen, Eric ; Hauke, Jan ; Kast, Karin ; Meindl, Alfons ; Niederacher, Dieter ; Schmutzler, Rita Katharina ; Varon - Mateeva, Raymonda ; Wang - Gohrke, Shan ; Wappenschmidt, Barbara ; Barjhoux, Laure ; Collonge - Rame, Marie - Agnès ; Elan, Camille ; Golmard, Lisa ; Barouk - Simonet, Emmanuelle ; Lesueur, Fabienne ; Mazoyer, Sylvie ; Sokolowska, Joanna ; Stoppa - Lyonnet, Dominique ; Isaacs, Claudine ; Claes, Kathleen B. M ; Poppe, Bruce ; De La Hoya, Miguel ; Garcia - Barberan, Vanesa ; Aittomäki, Kristiina ; Nevanlinna, Heli ; Ausems, Margreet G. E. M ; De Lange, J. L ; Gómez Garcia, Encarna B ; Hogervorst, Frans B. L ; Kets, Carolien M ; Meijers - Heijboer, Hanne E. J ; Oosterwijk, Jan C ; Rookus, Matti A ; Van Asperen, Christi J ; Van Den Ouweland, Ans M. W ; Van Doorn, Helena C ; Van Os, Theo A. M ; Kwong, Ava ; Olah, Edith ; Diez, Orland ; Brunet, Joan ; Lazaro, Conxi ; Teulé, Alex ; Gronwald, Jacek ; Jakubowska, Anna ; Kaczmarek, Katarzyna ; Lubinski, Jan ; Sukiennicki, Grzegorz ; Barkardottir, Rosa B ; Chiquette, Jocelyne ; Agata, Simona ; Montagna, Marco ; Teixeira, Manuel R ; Park, Sue Kyung ; Olswold, Curtis ; Tischkowitz, Marc ; Foretova, Lenka ; Gaddam, Pragna ; Vijai, Joseph ; Pfeiler, Georg ; Rappaport - Fuerhauser, Christine ; Singer, Christian F ; Tea, Muy - Kheng M ; Greene, Mark H ; Loud, Jennifer T ; Rennert, Gad ; Imyanitov, Evgeny N ; Hulick, Peter J ; Hays, John L ; Piedmonte, Marion ; Rodriguez, Gustavo C ; Martyn, Julie ; Glendon, Gord ; Mulligan, Anna Marie ; Andrulis, Irene L ; Toland, Amanda Ewart ; Jensen, Uffe Birk ; Kruse, Torben A ; Pedersen, Inge Sokilde ; Thomassen, Mads ; Caligo, Maria A ; Teo, Soo - Hwang ; Berger, Raanan ; Friedman, Eitan ; Laitman, Yael ; Arver, Brita ; Borg, Ake ; Ehrencrona, Hans ; Rantala, Johanna ; Olopade, Olufunmilayo I ; Ganz, Patricia A ; Nussbaum, Robert L ; Bradbury, Angela R ; Domchek, Susan M ; Nathanson, Katherine L ; Arun, Banu K ; James, Paul ; Karlan, Beth Y ; Lester, Jenny ; Simard, Jacques ; Pharoah, Paul D. P ; Offit, Kenneth ; Couch, Fergus J ; Chenevix - Trench, Georgia ; Easton, Douglas F ; Antoniou, Antonis C

JNCI: Journal of the National Cancer Institute, 2017, Vol. 109(7) [Rivista Peer Reviewed]

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, Karoline B ; Ramus, Susan J ; Tyrer, Jonathan ; Lee, Andrew ; Shen, Howard C ; Beesley, Jonathan ; Lawrenson, Kate ; Mcguffog, Lesley ; Healey, Sue ; Lee, Janet M ; Spindler, Tassja J ; Lin, Yvonne G ; Pejovic, Tanja ; Bean, Yukie ; Li, Qiyuan ; Coetzee, Simon ; Hazelett, Dennis ; Miron, Alexander ; Southey, Melissa ; Terry

Nature genetics, February 2015, Vol.47(2), pp.164-71 [Rivista Peer Reviewed]

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

Díez, Orland ; Osorio, Ana ; Durán, Mercedes ; Martinez-Ferrandis, José Ignacio ; De La Hoya, Miguel ; Salazar, Raquel ; Vega, Ana ; Campos, Berta ; Rodríguez-López, Raquel ; Velasco, Eladio ; Chaves, Javier ; Díaz-Rubio, Eduardo ; Jesús Cruz

Human mutation, October 2003, Vol.22(4), pp.301-12 [Rivista Peer Reviewed]

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

Díez, Orland ; Osorio, Ana ; Durán, Mercedes ; Martinez‐Ferrandis, José Ignacio ; Hoya, Miguel De La ; Salazar, Raquel ; Vega, Ana ; Campos, Berta ; Rodríguez‐López, Raquel ; Velasco, Eladio ; Chaves, Javier ; Díaz‐Rubio, Eduardo ; Jesús Cruz, Juan ; Torres, María ; Esteban, Eva ; Cervantes, Andrés ; Alonso, Carmen ; San Román, Juan Manuel ; González‐Sarmiento, Rogelio ; Miner, Cristina ; Carracedo, Angel ; Eugenia Armengod, María ; Caldés, Trinidad ; Benítez, Javier ; Baiget, Montserrat

Human Mutation, October 2003, Vol.22(4), pp.301-312 [Rivista Peer Reviewed]

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BRCA1 BRCA2 Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antoniou, Antonis C ; Kartsonaki, Christiana ; Sinilnikova, Olga M ; Soucy, Penny ; Mcguffog, Lesley ; Healey, Sue ; Lee, Andrew ; Peterlongo, Paolo ; Manoukian, Siranoush ; Peissel, Bernard ; Zaffaroni, Daniela ; Cattaneo, Elisa ; Barile, Monica ; Pensotti, Valeria ; Pasini, Barbara ; Dolcetti, Riccardo ; Giannini, Giuseppe ; Laura Putignano, Anna ; Varesco, Liliana ; Radice, Paolo ; Mai, Phuong L ; Greene, Mark H ; Andrulis, Irene L ; Glendon, Gord ; Ozcelik, Hilmi ; Thomassen, Mads ; Gerdes, Anne - Marie ; Kruse, Torben A ; Birk Jensen, Uffe ; Crüger, Dorthe G ; Caligo, Maria A ; Laitman, Yael ; Milgrom, Roni ; Kaufman, Bella ; Paluch - Shimon, Shani ; Friedman, Eitan ; Loman, Niklas ; Harbst, Katja ; Lindblom, Annika ; Arver, Brita ; Ehrencrona, Hans ; Melin, Beatrice ; Nathanson, Katherine L ; Domchek, Susan M ; Rebbeck, Timothy ; Jakubowska, Ania ; Lubinski, Jan ; Gronwald, Jacek ; Huzarski, Tomasz ; Byrski, Tomasz ; Cybulski, Cezary ; Gorski, Bohdan ; Osorio, Ana ; Ramón Y Cajal, Teresa ; Fostira, Florentia ; Andrés, Raquel ; Benitez, Javier ; Hamann, Ute ; Hogervorst, Frans B ; Rookus, Matti A ; Hooning, Maartje J ; Nelen, Marcel R ; Van Der Luijt, Rob B ; Van Os, Theo A. M ; Van Asperen, Christi J ; Devilee, Peter ; Meijers - Heijboer, Hanne E. J ; Gómez Garcia, Encarna B ; Peock, Susan ; Cook, Margaret ; Frost, Debra ; Platte, Radka ; Leyland, Jean ; Gareth Evans, D ; Lalloo, Fiona ; Eeles, Ros ; Izatt, Louise ; Adlard, Julian ; Davidson, Rosemarie ; Eccles, Diana ; Ong, Kai - Ren ; Cook, Jackie ; Douglas, Fiona ; Paterson, Joan ; John Kennedy, M ; Miedzybrodzka, Zosia ; Godwin, Andrew ; Stoppa - Lyonnet, Dominique ; Buecher, Bruno ; Belotti, Muriel ; Tirapo, Carole ; Mazoyer, Sylvie ; Barjhoux, Laure ; Lasset, Christine ; Leroux, Dominique ; Faivre, Laurence ; Bronner, Myriam ; Prieur, Fabienne ; Nogues, Catherine ; Rouleau, Etienne ; Pujol, Pascal ; Coupier, Isabelle ; Frénay, Marc ; Hopper, John L ; Daly, Mary B ; Terry, Mary B ; John, Esther M ; Buys, Saundra S ; Yassin, Yosuf ; Miron, Alexander ; Goldgar, David ; Singer, Christian F ; Tea, Muy - Kheng ; Pfeiler, Georg ; Catharina Dressler, Anne ; Hansen, Thomas V. O ; Jønson, Lars ; Ejlertsen, Bent ; Bjork Barkardottir, Rosa ; Kirchhoff, Tomas ; Offit, Kenneth ; Piedmonte, Marion ; Rodriguez, Gustavo ; Small, Laurie ; Boggess, John ; Blank, Stephanie ; Basil, Jack ; Azodi, Masoud ; Ewart Toland, Amanda ; Montagna, Marco ; Tognazzo, Silvia ; Agata, Simona ; Imyanitov, Evgeny ; Janavicius, Ramunas ; Lazaro, Conxi ; Blanco, Ignacio ; Pharoah, Paul D. P ; Sucheston, Lara ; Karlan, Beth Y ; Walsh, Christine S ; Olah, Edith ; Bozsik, Aniko ; Teo, Soo - Hwang ; Seldon, Joyce L ; Beattie, Mary S ; Van Rensburg, Elizabeth J ; Sluiter, Michelle D ; Diez, Orland ; Schmutzler, Rita K ; Wappenschmidt, Barbara ; Engel, Christoph ; Meindl, Alfons ; Ruehl, Ina ; Varon - Mateeva, Raymonda ; Kast, Karin ; Deissler, Helmut ; Niederacher, Dieter ; Arnold, Norbert ; Gadzicki, Dorothea ; Schönbuchner, Ines ; Caldes, Trinidad ; De La Hoya, Miguel ; Nevanlinna, Heli ; Aittomäki, Kristiina ; Dumont, Martine ; Chiquette, Jocelyne ; Tischkowitz, Marc ; Chen, Xiaoqing ; Beesley, Jonathan ; Spurdle, Amanda B ; Neuhausen, Susan L ; Chun Ding, Yuan ; Fredericksen, Zachary ; Wang, Xianshu ; Pankratz, Vernon S ; Couch, Fergus ; Simard, Jacques ; Easton, Douglas F ; Chenevix - Trench, Georgia

Human Molecular Genetics, 2011, Vol. 20(16), pp.3304-3321 [Rivista Peer Reviewed]

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Hamdi, Yosr ; Soucy, Penny ; Kuchenbaeker, Karoline B ; Pastinen, Tomi ; Droit, Arnaud ; Lemaçon, Audrey ; Adlard, Julian ; Aittomäki, Kristiina ; Andrulis, Irene L ; Arason, Adalgeir ; Arnold, Norbert ; Arun, Banu K ; Azzollini, Jacopo ; Bane, Anita ; Barjhoux, Laure ; Barrowdale, Daniel ; Benitez, Javier ; Berthet

Breast cancer research and treatment, January 2017, Vol.161(1), pp.117-134 [Rivista Peer Reviewed]

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