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oai:repisalud.isciii.es:20.500.12105/188642024-11-29T23:45:52Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Rebbeck, Timothy R author Friebel, Tara M author Friedman, Eitan author Hamann, Ute author Huo, Dezheng author Kwong, Ava author Olah, Edith author Olopade, Olufunmilayo I author Solano, Angela R author Teo, Soo-Hwang author Thomassen, Mads author Weitzel, Jeffrey N author Chan, T L author Couch, Fergus J author Goldgar, David E author Kruse, Torben A author Palmero, Edenir Inêz author Park, Sue Kyung author Torres, Diana author van Rensburg, Elizabeth J author McGuffog, Lesley author Parsons, Michael T author Leslie, Goska author Aalfs, Cora M author Abugattas, Julio author Adlard, Julian author Agata, Simona author Aittomäki, Kristiina author Andrews, Lesley author Andrulis, Irene L author Arason, Adalgeir author Arnold, Norbert author Arun, Banu K author Asseryanis, Ella author Auerbach, Leo author Azzollini, Jacopo author Balmaña, Judith author Barile, Monica author Barkardottir, Rosa B author Barrowdale, Daniel author Benitez, Javier author Berger, Andreas author Berger, Raanan author Blanco, Amie M author Blazer, Kathleen R author Blok, Marinus J author Bonadona, Valérie author Bonanni, Bernardo author Bradbury, Angela R author Brewer, Carole author Buecher, Bruno author Buys, Saundra S author Caldes, Trinidad author Caliebe, Almuth author Caligo, Maria A author Campbell, Ian author Caputo, Sandrine M author Chiquette, Jocelyne author Chung, Wendy K author Claes, Kathleen B M author Collée, J Margriet author Cook, Jackie author Davidson, Rosemarie author de la Hoya, Miguel author De Leeneer, Kim author de Pauw, Antoine author Delnatte, Capucine author Diez, Orland author Ding, Yuan Chun author Ditsch, Nina author Domchek, Susan M author Dorfling, Cecilia M author Velazquez, Carolina author Dworniczak, Bernd author Eason, Jacqueline author Easton, Douglas F author Eeles, Ros author Ehrencrona, Hans author Ejlertsen, Bent author Engel, Christoph author Engert, Stefanie author Evans, D Gareth author Faivre, Laurence author Feliubadaló, Lidia author Ferrer, Sandra Fert author Foretova, Lenka author Fowler, Jeffrey author Frost, Debra author Galvão, Henrique C R author Ganz, Patricia A author Garber, Judy author Gauthier-Villars, Marion author Gehrig, Andrea author Gerdes, Anne-Marie author Gesta, Paul author Giannini, Giuseppe author Giraud, Sophie author Glendon, Gord author Godwin, Andrew K author Greene, Mark H author Gronwald, Jacek author Gutierrez-Barrera, Angelica author Hahnen, Eric author Hauke, Jan author Henderson, Alex author Hentschel, Julia author Hogervorst, Frans B L author Honisch, Ellen author Imyanitov, Evgeny N author Isaacs, Claudine author Izatt, Louise author Izquierdo, Angel author Jakubowska, Anna author James, Paul author Janavicius, Ramunas author Jensen, Uffe Birk author John, Esther M author Vijai, Joseph author Kaczmarek, Katarzyna author Karlan, Beth Y author Kast, Karin author Investigators, KConFab author Kim, Sung-Won author Konstantopoulou, Irene author Korach, Jacob author Laitman, Yael author Lasa, Adriana author Lasset, Christine author Lázaro, Conxi author Lee, Annette author Lee, Min Hyuk author Lester, Jenny author Lesueur, Fabienne author Liljegren, Annelie author Lindor, Noralane M author Longy, Michel author Loud, Jennifer T author Lu, Karen H author Lubinski, Jan author Machackova, Eva author Manoukian, Siranoush author Mari, Véronique author Martínez-Bouzas, Cristina author Matrai, Zoltan author Mebirouk, Noura author Meijers-Heijboer, Hanne E J author Meindl, Alfons author Mensenkamp, Arjen R author Mickys, Ugnius author Miller, Austin author Montagna, Marco author Moysich, Kirsten B author Mulligan, Anna Marie author Musinsky, Jacob author Neuhausen, Susan L author Nevanlinna, Heli author Ngeow, Joanne author Nguyen, Huu Phuc author Niederacher, Dieter author Nielsen, Henriette Roed author Nielsen, Finn Cilius author Nussbaum, Robert L author Offit, Kenneth author Öfverholm, Anna author Ong, Kai-Ren author Osorio, Ana author Papi, Laura author Papp, Janos author Pasini, Barbara author Pedersen, Inge Sokilde author Peixoto, Ana author Peruga, Nina author Peterlongo, Paolo author Pohl, Esther author Pradhan, Nisha author Prajzendanc, Karolina author Prieur, Fabienne author Pujol, Pascal author Radice, Paolo author Ramus, Susan J author Rantala, Johanna author Rashid, Muhammad Usman author Rhiem, Kerstin author Robson, Mark author Rodriguez, Gustavo C author Rogers, Mark T author Rudaitis, Vilius author Schmidt, Ane Y author Schmutzler, Rita Katharina author Senter, Leigha author Shah, Payal D author Sharma, Priyanka author Side, Lucy E author Simard, Jacques author Singer, Christian F author Skytte, Anne-Bine author Slavin, Thomas P author Snape, Katie author Sobol, Hagay author Southey, Melissa author Steele, Linda author Steinemann, Doris author Sukiennicki, Grzegorz author Sutter, Christian author Szabo, Csilla I author Tan, Yen Y author Teixeira, Manuel R author Terry, Mary Beth author Teulé, Alex author Thomas, Abigail author Thull, Darcy L author Tischkowitz, Marc author Tognazzo, Silvia author Toland, Amanda Ewart author Topka, Sabine author Trainer, Alison H author Tung, Nadine author van Asperen, Christi J author van der Hout, Annemieke H author van der Kolk, Lizet E author van der Luijt, Rob B author Van Heetvelde, Mattias author Varesco, Liliana author Varon-Mateeva, Raymonda author Vega, Ana author Villarreal-Garza, Cynthia author von Wachenfeldt, Anna author Walker, Lisa author Wang-Gohrke, Shan author Wappenschmidt, Barbara author Weber, Bernhard H F author Yannoukakos, Drakoulis author Yoon, Sook-Yee author Zanzottera, Cristina author Zidan, Jamal author Zorn, Kristin K author Hutten Selkirk, Christina G author Hulick, Peter J author Chenevix-Trench, Georgia author Spurdle, Amanda B author Nathanson, Katherine L author Antoniou, Antonis C funder Cancer Research UK (Reino Unido) funder UK Research and Innovation funder National Breast Cancer Foundation (UK) 2024-02-28T12:09:05Z 2024-02-28T12:09:05Z 2018-05 Hum Mutat . 2018 ;39(5):593-620. 10.1002/humu.23406 1098-1004 Human mutation 29446198 http://hdl.handle.net/20.500.12105/18864 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 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations. eng Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. journal article 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 URL https://repisalud.isciii.es/bitstreams/5888cbba-578e-421f-b2f5-fc8799db770a/download File MD5 8d60e5791968f5fca6a97fc73a01baa8 876425 application/pdf Human Mutation - 2018 - Rebbeck - Mutationalspectrumworldwide_2018.pdf URL https://repisalud.isciii.es/bitstreams/d6aaf516-3011-4cc4-be49-36cecbe964ea/download File MD5 f4d898748440bbcc4cbd8284d7fd762b 135076 text/plain Human Mutation - 2018 - Rebbeck - Mutationalspectrumworldwide_2018.pdf.txt