Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations

R. Rebbeck, Timothy; M. Friebel, Tara; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Oláh, Edith; I. Olopade, Olufunmilayo; R. Solano, Ángela; Teo, Soo‐Hwang; Thomassen, Mads; N. Weitzel, Jeffrey; Chan, TL; J. Couch, Fergus; E. Goldgar, David; A. Kruse, Torben; Inêz Palmero, Edenir; K. Park, Sue; Torres, Diana; J. van Rensburg, Elizabeth; McGuffog, Lesley; T. Parsons, Michael; Leslie, Goska; M. Aalfs, Cora; E. Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Andrews, Lesley; L. Andrulis, Irene; Arason, Aðalgeir; Arnold, Norbert; Arun, Banu; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmañà, Judith; Barile, Monica; B. Barkardóttir, Rósa; Barrowdale, Daniel; Benı́tez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie; R. Blazer, Kathleen; J. Blok, Marinus; Bonadona, Valérie; Bonanni, Bernardo; R. Bradbury, Angela; Brewer, Carole; Buecher, Bruno; S. Buys, Saundra; Caldés, Trinidad; Caliebe, Almuth; A. Caligo, Maria; Campbell, Ian; M. Caputo, Sandrine; Chiquette, Jocelyne; K. Chung, Wendy; Claes, Kathleen; Margriet Collée, J.; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; De Pauw, Antoine; Delnatte, Capucine; Dı́ez, Orland; Chun Ding, Yuan; Ditsch, Nina; M. Domchek, Susan; M. Dorfling, Cecilia; Velázquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; F. Easton, Douglas; A. Eeles, Rosalind; Ehrencrona, Hans; Ejlertsen, Bent; , EMBRACE; Engel, Christoph; Engert, Stefanie; Gareth Evans, D.; Faivre, Laurence; Feliubadaló, Lídia; Fert Ferrer, Sandra; Foretová, Lenka; M. Fowler, Jeffrey; Frost, Debra; C.R. Galvão, Henrique; A. Ganz, Patricia; E. Garber, Judy; Gauthier‐Villars, Marion; Gehrig, Andrea; Study Collaborators, GEMO; Gerdes, Anne‐Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; K. Godwin, Andrew; H. Greene, Mark; Gronwald, Jacek; M. Gutierrez‐Barrera, Angelica; Hahnen, Eric; Hauke, Jan; , HEBON; Henderson, Alex; Hentschel, Julia; B. L. Hogervorst, Frans; Honisch, Ellen; N. Imyanitov, Evgeny; Isaacs, Claudine; Izatt, Louise; Izquierdo, Á.; Jakubowska, Anna; A. James, Paul; Janavičius, Ramūnas; Birk Jensen, Uffe; M. John, Esther; Vijai, Joseph; Kaczmarek, Katarzyna; Y. Karlan, Beth; Kast, Karin; Investigators, kConFab; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; Lázaro, Conxi; Lee, Annette; Hyuk Lee, Min; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; M. Lindor, Noralane; Longy, Michel; T. Loud, Jennifer; H. Lu, Karen; Lubiński, Jan; Macháčková, Eva; Manoukian, Siranoush; Mari, Véronique; Martínez-Bouzas, Cristina; Mátrai, Zoltán; Mebirouk, Noura; Meijers‐Heijboer, Hanne; Meindl, Alfons; R. Mensenkamp, Arjen; Mickys, Ugnius; Miller, Austin; Montagna, Marco; B. Moysich, Kirsten; Marie Mulligan, Anna; Musinsky, Jacob; L. Neuhausen, Susan; Nevanlinna, Heli; Ngeow, Joanne; Phuc Nguyen, Huu; Niederacher, Dieter; Roed Nielsen, Henriette; C. Nielsen, Finn; L. Nussbaum, Robert; Offit, Kenneth; Öfverholm, Anna; Ong, Kai‐Ren; Osório, Ana; Papi, Laura; Papp, J.; Pasini, Barbara; Søkilde Pedersen, Inge; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; J. Ramus, Susan; Rantala, Johanna; Usman Rashid, Muhammad; Rhiem, Kerstin; E. Robson, Mark; C. Rodriguez, Gustavo; T. Rogers, Mark; Rudaitis, Vilius; Yde Schmidt, Ane; K. Schmutzler, Rita; Senter, Leigha; D. Shah, Payal; Sharma, Priyanka; Side, Lucy; Simard, Jacques; F. Singer, Christian; Skytte, Anne‐Bine; P. Slavin, Thomas; Snape, Katie; Sobol, Hagay; C. Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; I. Szabo, Csilla; Y. Tan, Yen; R. Teixeira, Manuel; Beth Terry, Mary; Teulé, Àlex; Thomas, Abigail; L. Thull, Darcy; Tischkowitz, Marc; Tognazzo, Silvia; Ewart Toland, Amanda; Topka, Sabine; H. Trainer, Alison; Tung, Nadine; J. van Asperen, Christi; H. van der Hout, Annemieke; E. van der Kolk, Lizet; B. van der Luijt, Rob; Van Heetvelde, Mattias; Varesco, Liliana; Varon‐Mateeva, Raymonda; Vega, Ana; Villarreal‐Garza, Cynthia; von Wachenfeldt, Anna; Walker, Lisa; Wang‐Gohrke, Shan; Wappenschmidt, Barbara; H. F. Weber, Bernhard; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zidan, Jamal; K. Zorn, Kristin; G. Selkirk, Christina; J. Hulick, Peter; Chenevix‐Trench, Georgia; B. Spurdle, Amanda; C. Antoniou, Antonis; L. Nathanson, Katherine

doi:10.1002/humu.23406

Public

Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations

Published in Human Mutation • Feb 15, 2018

Authors:

Timothy R. Rebbeck

Tara M. Friebel

Eitan Friedman

Abstract

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 m...

Subject

Founder effect

Genetics

Biology

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