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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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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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5
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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Peterlongo, Paolo ; Chang-Claude, Jenny ; Moysich, Kirsten B ; Rudolph, Anja ; Schmutzler, Rita K ; Simard, Jacques ; Soucy, Penny ; Eeles, Rosalind A ; Easton, Douglas F ; Hamann, Ute ; Wilkening, Stefan ; Chen, Bowang ; Rookus, Matti A ; Schmidt, Marjanka K ; Van Der Baan, Frederieke H ; Spurdle, Amanda B ; Walker, Logan C ; Lose, Felicity ; Maia, Ana-Teresa ; Montagna

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, January 2015, Vol.24(1), pp.308-16 [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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7
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, Karoline B ; Neuhausen, Susan L ; Robson, Mark ; Barrowdale, Daniel ; Mcguffog, Lesley ; Mulligan, Anna Marie ; Andrulis, Irene L ; Spurdle, Amanda B ; Schmidt, Marjanka K ; Schmutzler, Rita K ; Engel, Christoph ; Wappenschmidt, Barbara ; Nevanlinna, Heli ; Thomassen, Mads ; Southey, Melissa ; Radice, Paolo ; Ramus, Susan J ; Domchek, Susan M ; Nathanson, Katherine L ; Lee

Breast cancer research : BCR, 31 December 2014, Vol.16(6), pp.3416 [Rivista Peer Reviewed]

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8
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Rebbeck, Timothy R ; Mitra, Nandita ; Wan, Fei ; Sinilnikova, Olga M ; Healey, Sue ; Mcguffog, Lesley ; Mazoyer, Sylvie ; Chenevix-Trench, Georgia ; Easton, Douglas F ; Antoniou, Antonis C ; Nathanson, Katherine L ; Laitman, Yael ; Kushnir, Anya ; Paluch-Shimon, Shani ; Berger, Raanan ; Zidan, Jamal ; Friedman, Eitan ; Ehrencrona, Hans ; Stenmark-Askmalm, Marie ; Einbeigi

JAMA, 07 April 2015, Vol.313(13), pp.1347-61 [Rivista Peer Reviewed]

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di questo autore:

  1. Osorio, Ana
  2. Benitez, Javier
  3. Spurdle, Amanda B
  4. Arnold, Norbert
  5. Wappenschmidt, Barbara

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