Publications 2015

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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Ovarian cancer risk loci-4Karoline B Kuchenbaecker, Susan J Ramus, Jonathan Tyrer, Andrew Lee, Howard C Shen, Jonathan Beesley, Kate Lawrenson, Lesley McGuffog, Sue Healey, Janet M Lee, Tassja J Spindler, Yvonne G Lin, Tanja Pejovic, Yukie Bean, Qiyuan Li, Simon Coetzee–, Dennis Hazelett, Alexander Miron, Melissa Southey, Mary Beth Terry, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Cecilia M Dorfling, Elizabeth J van Rensburg, Susan L Neuhausen, Yuan Chun Ding, Thomas V O Hansen, Lars Jønson, Anne-Marie Gerdes, Bent Ejlertsen, Daniel Barrowdale, Joe Dennis, Javier Benitez–, Ana Osorio, Maria Jose Garcia, Ian Komenaka, Jeffrey N Weitzel, Pamela Ganschow, Paolo Peterlongo, Loris Bernard, Alessandra Viel, Bernardo Bonanni, Bernard Peissel, Siranoush Manoukian, Paolo Radice, Laura Papi, Laura Ottini, Florentia Fostira, Irene Konstantopoulou, Judy Garber, Debra Frost, Jo Perkins, Radka Platte, Steve Ellis, EMBRACE, Andrew K Godwin, Rita Katharina Schmutzler–, Alfons Meindl, Christoph Engel, Christian Sutter, Olga M Sinilnikova, GEMO Study Collaborators, Francesca Damiola, Sylvie Mazoyer, Dominique Stoppa-Lyonnet–, Kathleen Claes, Kim De Leeneer, Judy Kirk, Gustavo C Rodriguez, Marion Piedmonte, David M O’Malley, Miguel de la Hoya, Trinidad Caldes, Kristiina Aittomäki, Heli Nevanlinna, J Margriet Collée, Matti A Rookus, Jan C Oosterwijk, Breast Cancer Family Registry, Laima Tihomirova, Nadine Tung, Ute Hamann, Claudine Isaccs, Marc Tischkowitz, Evgeny N Imyanitov, Maria A Caligo, Ian G Campbell, Frans B L Hogervorst, HEBON, Edith Olah, Orland Diez, Ignacio Blanco, Joan Brunet, Conxi Lazaro, Miquel Angel Pujana, Anna Jakubowska, Jacek Gronwald, Jan Lubinski, Grzegorz Sukiennicki, Rosa B Barkardottir, Marie Plante, Jacques Simard, Penny Soucy, Marco Montagna, Silvia Tognazzo, Manuel R Teixeira, KConFab Investigators, Vernon S Pankratz, Xianshu Wang, Noralane Lindor, Csilla I Szabo, Noah Kauff, Joseph Vijai, Carol A Aghajanian, Georg Pfeiler, Andreas Berger, Christian F Singer, Muy-Kheng Tea, Catherine M Phelan, Mark H Greene, Phuong L Mai, Gad Rennert, Anna Marie Mulligan, Sandrine Tchatchou, Irene L Andrulis, Gord Glendon, Amanda Ewart Toland, Uffe Birk Jensen, Torben A Kruse, Mads Thomassen, Anders Bojesen, Jamal Zidan, Eitan Friedman, Yael Laitman, Maria Soller, Annelie Liljegren, Brita Arver, Zakaria Einbeigi, Marie Stenmark-Askmalm, Olufunmilayo I Olopade, Robert L Nussbaum, Timothy R Rebbeck, Katherine L Nathanson, Susan M Domchek, Karen H Lu, Beth Y Karlan, Christine Walsh, Jenny Lester, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Peter A Fasching, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambrechts, Ed Dicks, Jennifer A Doherty, Kristine G Wicklund, Mary Anne Rossing, Anja Rudolph, Jenny Chang-Claude, Shan Wang-Gohrke, Ursula Eilber, Kirsten B Moysich, Kunle Odunsi, Lara Sucheston, Shashi Lele, Lynne R Wilkens, Marc T Goodman, Pamela J Thompson, Yurii B Shvetsov, Ingo B Runnebaum, Matthias Dürst, Peter Hillemanns, Thilo Dörk, Natalia Antonenkova, Natalia Bogdanova, Arto Leminen, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno–, Joseph L Kelley, Robert P Edwards, Roberta B Ness, Andreas du Bois, Florian Heitz, Ira Schwaab, Philipp Harter, Keitaro Matsuo, Satoyo Hosono, Sandra Orsulic, Allan Jensen, Susanne Kruger Kjaer, Estrid Hogdall, Hanis Nazihah Hasmad, Mat Adenan Noor Azmi, Soo-Hwang Teo, Yin-Ling Woo, Brooke L Fridley, Ellen L Goode, Julie M Cunningham, Robert A Vierkant, Fiona Bruinsma, Graham G Giles, Dong Liang, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Joellen M Schildkraut, Patrick Concannon, Rachel Palmieri Weber, Daniel W Cramer, Kathryn L Terry, Elizabeth M Poole, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Camilla Krakstad, Helga B Salvesen, Ingvild L Tangen, Line Bjorge, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Melissa Kellar, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Cezary Cybulski, Hannah Yang, Jolanta Lissowska, Louise A Brinton, Nicolas Wentzensen, Claus Hogdall, Lene Lundvall, Lotte Nedergaard, Helen Baker, Honglin Song, Diana Eccles, Ian McNeish, James Paul, Karen Carty, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Bu-Tian Ji, Wei Zheng, Xiao-Ou Shu, Yu-Tang Gao, Barry Rosen, Harvey A Risch, John R McLaughlin, Steven A Narod, Alvaro N Monteiro, Ann Chen, Hui-Yi Lin, Jenny Permuth-Wey, Thomas A Sellers, Ya-Yu Tsai, Zhihua Chen, Argyrios Ziogas, Hoda Anton-Culver, Aleksandra Gentry-Maharaj, Usha Menon, Patricia Harrington, Alice W Lee, Anna H Wu, Celeste L Pearce, Gerry Coetzee, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Agnieszka Timorek, Iwona K Rzepecka, Jolanta Kupryjanczyk, Matt Freedman, Houtan Noushmehr, Douglas F Easton, Kenneth Offit, Fergus J Couch, Simon Gayther, Paul P Pharoah, Antonis C Antoniou, & Georgia Chenevix-Trench, for the Consortium of Investigators of Modifiers of BRCA and BRCA

Nature Genetics 47(2):164-71

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine

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Castellsagueet al-2015-EMBO Molecular Medicine-3Joan Castellsagué, Bernat Gel, Juana Fernández-Rodríguez, Roger Llatjós, Ignacio Blanco, Yolanda Benavente, Diana Pérez-Sidelnikova, Javier García-del Muro, Joan Maria Viñals, August Vidal, Rafael Valdés-Mas, Ernest Terribas, Adriana López-Doriga, Miguel Angel Pujana, Gabriel Capellá, Xose S Puente, Eduard Serra, Alberto Villanueva & Conxi Lázaro

 

EMBO Molecular Medicine Mar 25. pii: e201404430

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

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plos 2015Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Gorka Ruiz de Garibay, Pablo Librado, Alejandro Sánchez-Gracia, Julio Rozas, Núria Bonifaci, Lesley McGuffog, Vernon S. Pankratz, Abul Islam, Francesca Mateo, Antoni Berenguer, Anna Petit, Isabel Català, Joan Brunet, Lidia Feliubadaló, Eva Tornero, Javier Benítez, Ana Osorio, Teresa Ramón y Cajal, Heli Nevanlinna, Kristiina Aittomäki, Banu K. Arun, Amanda E. Toland, Beth Y. Karlan, Christine Walsh, Jenny Lester, Mark H. Greene, Phuong L. Mai, Robert L. Nussbaum, Irene L. Andrulis, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Rosa B. Barkardottir, Anna Jakubowska, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Kathleen Claes, Tom Van Maerken, Orland Díez, Thomas V. Hansen, Lars Jønson, Anne-Marie Gerdes, Bent Ejlertsen, Miguel de la Hoya, Trinidad Caldés, EMBRACE, Alison M. Dunning, Clare Oliver, Elena Fineberg, Margaret Cook, Susan Peock, Emma McCann, Alex Murray, Chris Jacobs, Gabriella Pichert, Fiona Lalloo, Carol Chu, Huw Dorkins, Joan Paterson, Kai-Ren Ong, Manuel R. Teixeira, HEBON, Frans B. L. Hogervorst, Annemarie H. van der Hout, Caroline Seynaeve, Rob B. van der Luijt, Marjolijn J. L. Ligtenberg, Peter Devilee,, Juul T. Wijnen,, Matti A. Rookus, Hanne E. J. Meijers-Heijboer, Marinus J. Blok, Ans M. W. van den Ouweland, Cora M. Aalfs, Gustavo C. Rodriguez, Kelly-Anne A. Phillips, Marion Piedmonte, Stacy R. Nerenstone, Victoria L. Bae-Jump, David M. O'Malley, Elena S. Ratner, Rita K. Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hansjoerg J. Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Uffe Birk Jensen, Mads Thomassen, Torben A. Kruse, Lenka Foretova, Paolo Peterlongo, Loris Bernard, Bernard Peissel, Giulietta Scuvera, Siranoush Manoukian, Paolo Radice, Laura Ottini, Marco Montagna, Simona Agata, Christine Maugard, Jacques Simard, Penny Soucy, Andreas Berger, Anneliese Fink-Retter, Christian F. Singer, Christine Rappaport, Daphne Geschwantler-Kaulich, Muy-Kheng Tea, Georg Pfeiler, BCFR, Esther M. John, Alex Miron, Susan L. Neuhausen, Mary Beth Terry, Wendy K. Chung, Mary B. Daly, David E. Goldgar, Ramunas Janavicius, Cecilia M. Dorfling, Elisabeth J. van Rensburg, Florentia Fostira, Irene Konstantopoulou, Judy Garber, Andrew K. Godwin, Edith Olah, Steven A. Narod, Gad Rennert, Shani Shimon Paluch, Yael Laitman, Eitan Friedman,, SWE-BRCA, Annelie Liljegren, Johanna Rantala, Marie Stenmark-Askmalm, Niklas Loman, Evgeny N. Imyanitov, Ute Hamann, kConFab Investigators, Amanda B. Spurdle, Sue Healey, Jeffrey N. Weitzel, Josef Herzog, David Margileth, Chiara Gorrini, Manel Esteller-, Antonio Gómez, Sergi Sayols, Enrique Vidal, Holger Heyn, GEMO, Dominique Stoppa-Lyonnet-, Melanie Léoné, Laure Barjhoux, Marion Fassy-Colcombet, Antoine de Pauw, Christine Lasset, Sandra Fert Ferrer, Laurent Castera, Pascaline Berthet, François Cornelis, Yves-Jean Bignon, Francesca Damiola, Sylvie Mazoyer, Olga M. Sinilnikova,†, Christopher A. Maxwell, Joseph Vijai, Mark Robson, Noah Kauff, Marina J. Corines, Danylko Villano, Julie Cunningham,, Adam Lee, Noralane Lindor, Conxi Lázaro, Douglas F. Easton, Kenneth Offit, Georgia Chenevix-Trench, Fergus J. Couch, Antonis C. Antoniou, Miguel Angel Pujana

PLoS One 10(4):e0120020

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity, and is a familial breast cancer risk factor FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity, and is a familial breast cancer risk factor

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HMG CIMBA 2015-8Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone G, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.

Human Molecular Genetics, June 30.

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

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Gastro 2015-15Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MA, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L.

Gastroenterology, Jun 4.