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Title

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

AuthorsRebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo-Hwamg; Thomassen, Mads; Sukiennicki, Grzegorz; Sutter, Christian; szabo, Csilla I., Tan, Yen Y.; Teixeira, Manuel R.; Terry, Mary Beth; Gutierrez-Barrera, Angelica; Teulé, Alex; Parsons, Michael T.; thomas, Abigail; Bonadona, Valérie; Konstantopoulou, Irene; Thull, Darcy L.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H.; Tung, Nadine; Hahnen, Eric; Asperen, Christi J. van; Hout, Annemieke H. van der; Korach, Jacob; Hogervorst, Frans B. L.; Leslie, Goska; Kolk, Lizet E. van der; Luijt, Rob B. van der; Heetvelde, Mattias van; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Villarreal-Garza, Cynthia; Hauke, Jan; Laitman, Yael; Wachenfeldt, Anna von; Ramus, Susan J.; Walker, Lisa; Wang-Gohrke, Shan; Aalfs, Cora M.; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Lasa, Adrian; Zidan, Jamal; HEBON; Bonanni, Bernardo; Zorn, Kristin K.; Selkirk, Christina G. Hutten; Hulick, Peter J.; Chenevix-Trench, Georgia; Abugattas, Julio; Spurdle, Amanda B.; Antoniou, Antonis C.; Lasset, Christine; Nathanson, Katherine L.; Adlard, Julian; Agata, Simona; Bradbury, Angela R.; Henderson, Alex; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Couch, Fergus J.; Arun, Branu K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Brewer, Carole; Balmaña, Judith; Hentschel, Julia; Barile, Monica; Buecher, Bruno; Buys, Saundra S.; Lázaro, Conxi; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campbell, Ian; Caputo, Sandrine M.; Rantala, Johanna; Honisch, Ellen; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B. M.; Lee, Annette; Collée, J. Margriet; Cook, Jackie; Davidson, Rosemarie; Hoya, Miguel de la; Leeneer, Kim de; Pauw, Antoine de; Rashid, Muhammad Usman; Delnatte, Capucine; Weitzel, Jeffrey N.; Díez, Orland; Lee, Min Hyuk; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M.; Dorfling, Cecilia M.; Velázquez Pérez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Rhiem, Kerstin; Easton, Douglas F.; Eeles, Ros; Schmidt, Ane Y.; Imyanitov, Evgeny N.; Ehrencrona, Hans; Ejlertsen, Bent; EMBRACE; Engel, Christoph; Engert, Stefanie, Evans, D. Gareth; Faivre, Laurence; Feliubadaló, Lidia; Robson, Mark; Fert Ferrer, Sandra; Barkardottir, Rosa B.; Foretova, Lenka; Fowler, Jeffrey; Isaacs, Claudine; Frost, Debra; Galvão, Henrique C. R.; Ganz, Patricia A.; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Rodriguez, Gustavo C.; Lester, Jenny; GEMO Study Collaborators; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Izat, Louise; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Izquierdo, Angel; Jakubowska, Anna; Lesueur, Fabienne; Rogers, Mark T.; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Vijai, Joseph; Chan, T. L.; Kaczmarek, Katarzyna; Karlan, Beth Y.; Kast, Karin; Liljegren, Annelie; KConFab Investigators; Rudaitis, Vilius; Kim, Sung-Won; Lindor, Noralane M.; Longy, Michel; Loud, Jennifer T.; Lu, Karen H.; Goldgar, David E.; Lubinski, Jan; Machackova, Eva; Barrowdale, Daniel; Rensburg, Elizabeth J. van; Manoukian, Siranoush; Mari, Véronique; Martínez-Bouzaz, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E. J.; Meindl, Alfons; Mensenkamp, Arjen R.; Kruse, Torben A.; Benitez, Javier; Mickys, Ugnius; Greene, Mark H.; Miller, Austin; Montagna, Marco; Moysich, Kirsten B.; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L.; Nevanlinna, Heli; Ngeow, Joanne; Berger, Andreas; Nguyen, Huu Phuc; Palmero, Edenir Inêz; Schmutzler, Rita Katharina; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L.; Offit, Kenneth; Öfverholm, Anna; Ong, Kai-ren; Berger, Raanan; Osorio, Ana; Papi, Laura; Papp, Janos; Senter, Leigha; Kyung Park, Sue; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Blanco, Amie M.; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Shah, Payal D.; Pujol, Pascal; Torres, Diana; Radice, Paolo; Sharma, Priyanka; Side, Lucy E.; Blazer, Kathleen R.; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Slavin, Thomas P.; Snape, Katie; Gronwald, Jacek; McGuffog, Lesley; Sobol, Hagay; Southey, Melissa; Steele, Linda; Blok, Marinus J.; Steinemann, Doris
Issue Date2018
PublisherWiley-VCH
CitationHuman Mutation 39(5): 593-620 (2018)
AbstractThe 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.
Publisher version (URL)https://doi.org/10.1002/humu.23406
URIhttp://hdl.handle.net/10261/196999
Identifiersdoi: 10.1002/humu.23406
e-issn: 1098-1004
issn: 1059-7794
Appears in Collections:(IBGM) Artículos
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