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

Rebbeck, Tr R.; VanHeetvelde, M.; Tr, Rebbeck; Friebel, Tm M.; Weitzel, Jn N.; Olopade, Oi I.; Thomassen, Mads; Solano, Ar R.; Teo, Sh-H.; Friedman, Eitan; Chan, Tl L.; van Rensburg, Ej J.; Tm, Friebel; Couch, Fj J.; Torres, Diana; Goldgar, De E.; Tl, Chan; Kruse, Ta A.; Hamann, Ute; Palmero, Ei I.; Teu, A.; Park, Sk K.; Huo, Dezheng; McGuffog, Lesley; Parsons, Mt T.; Leslie, Goska; Aalfs, Cm M.; Kwong, Ava; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Olah, Edith; Andrews, Lesley; Andrulis, Il L.; Arason, Adalgeir; Arnold, Norbert; Arun, Bk K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmaña, Judith; Barile, Monica; Oi, Olopade; Barkardottir, Rb B.; de la Hoya, M.; Barrowdale, Daniel; Benitez, Javier; de Pauw, A.; Berger, Andreas; Sh, Teo; Berger, Raanan; Blanco, Am M.; Blazer, Kr R.; Blok, Mj J.; Velazquez, C.; Bonadona,; Bonanni, B.; Bradbury, Ar R.; Brewer, C.; Buecher, B.; Buys, Ss S.; Caldes, T.; Caliebe, A.; Caligo,; Campbell, I.; Caputo, Sm M.; Chiquette, J.; Chung, Wk K.; Claes, Kbm B. M.; Collée, Jm M.; Cook, J.; Davidson, R.; De Leeneer, K.; Delnatte, C.; Diez, O.; Ding, Yc C.; Ditsch, N.; Domchek, Sm M.; Dorfling, Cm M.; Dworniczak, B.; Eason, J.; Easton, Df F.; Singer, Df; Eeles, R.; Ehrencrona, H.; Ejlertsen, B.; Engel, C.; Engert, S.; Evans, Dg G.; Faivre, L.; Feliubadaló, L.; Vijai, J.; Ferrer, Sf F.; Foretova, L.; Fowler, J.; Frost, D.; Sutter, G.; Galvão, Hcr C. R.; Ganz, Pa A.; Garber, J.; Gauthier-Villars, M.; Gehrig, A.; Gerdes, Am-M.; Gesta, P.; Giannini, G.; Giraud, S.; Glendon, G.; Godwin, Ak K.; Greene, Mh H.; Gronwald, J.; Gutierrez-Barrera, A.; Hahnen, E.; Hauke, J.; Henderson, A.; Hentschel, J.; Hogervorst, Fbl B. L.; Honisch, E.; Imyanitov, En N.; Öfverholm, A.; Isaacs, C.; Izatt, L.; Izquierdo, A.; Jakubowska, A.; James, P.; Janavicius, R.; Jensen, Ub B.; John, Em M.; Kaczmarek, K.; Karlan, By Y.; Kast, K.; Kim, Sw-W.; Konstantopoulou, I.; Korach, J.; Laitman, Y.; Lasa, A.; Lasset, C.; Lázaro, C.; Lee, A.; Lee, Mh H.; Lester, J.; Lesueur, F.; Liljegren, A.; Lindor, Nm M.; Manoukian, S.; Longy, M.; Mari,; Loud, Jt T.; Martínez-Bouzas, C.; Lu, Kh H.; Matrai, Z.; Lubinski, J.; Mebirouk, N.; Machackova, Eva; Meijers-Heijboer, Hej E. J.; Trainer, Ah H.; Meindl, A.; Tung, N.; Mensenkamp, Ar R.; van Asperen, Cj J.; Mickys, U.; Terry, Mb B.; Miller, A.; Investigators, KConFab; van der Hout, Ah H.; Montagna, M.; van der Kolk, Le E.; Teulé, A.; Moysich, Kb B.; Mulligan, Am M.; van der Luijt, Rb B.; Thomas, A.; Musinsky, J.; Van Heetvelde, M.; Neuhausen, Sl L.; Thull, Dl L.; Nevanlinna, H.; Varesco, L.; Ngeow, J.; Varon-Mateeva, R.; Tischkowitz, M.; Nguyen, Hp P.; Niederacher, D.; Vega, A.; Tognazzo, S.; Nielsen, Hr R.; Nielsen, Fc C.; Villarreal-Garza, C.; Toland, Ae E.; Nussbaum, Rl L.; Offit, K.; von Wachenfeldt, A.; Topka, S.; Ong, Kr-R.; Walker, L.; Osorio, A.; Papi, L.; Wang-Gohrke, S.; Papp, J.; Pasini, B.; Wappenschmidt, B.; Pedersen, Is S.; Peixoto, A.; Weber, Bhf H. F.; Peruga, N.; Peterlongo, P.; Yannoukakos, D.; Pohl, E.; Pradhan, N.; Yoon, Sy-Y.; Prajzendanc, K.; Zanzottera, C.; Prieur, F.; Pujol, P.; Zidan, J.; Radice, P.; Zorn, Kk K.; Ramus, Sj J.; Rantala, J.; Rashid, Mu U.; Rhiem, K.; Robson, M.; Rodriguez, Gc C.; Rogers, Mt T.; Rudaitis,; Schmidt, Ay Y.; Schmutzler, Rk K.; Senter, L.; Shah, Pd D.; Sharma, P.; Side, Le E.; Simard, J.; Singer, C. F.; Skytte, Anne-Bine; Slavin, Tp P.; Snape, K.; Sobol, H.; Southey, M.; Steele, L.; Steinemann, D.; Sukiennicki, G.; Sutter, C.; Szabo, Ci I.; Tan, Yy Y.; Teixeira, Mr R.; Ar, Solano; Jn, Weitzel; Embrace,; Fj, Couch; Gemo, Study Collaborators; Hebon,; Hutten Selkirk, Cg G.; Selkirk, C. G. H.; Hulick, Pj J.; Chenevix-Trench, G.; Spurdle,; Antoniou, Ac C.; Cimba, Consortium; Nathanson, Kl L.; Kl, Nathanson

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Jeffrey Weitzel
Rebbeck et al., 2018

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@article{Rebbeck2018,
  author = {Rebbeck, Tr R. and VanHeetvelde, M. and Tr, Rebbeck and Friebel, Tm M. and Weitzel, Jn N. and Olopade, Oi I. and Thomassen, Mads and Solano, Ar R. and Teo, Sh-H. and Friedman, Eitan and Chan, Tl L. and van Rensburg, Ej J. and Tm, Friebel and Couch, Fj J. and Torres, Diana and Goldgar, De E. and Tl, Chan and Kruse, Ta A. and Hamann, Ute and Palmero, Ei I. and Teu, A. and Park, Sk K. and Huo, Dezheng and McGuffog, Lesley and Parsons, Mt T. and Leslie, Goska and Aalfs, Cm M. and Kwong, Ava and Abugattas, Julio and Adlard, Julian and Agata, Simona and Aittomäki, Kristiina and Olah, Edith and Andrews, Lesley and Andrulis, Il L. and Arason, Adalgeir and Arnold, Norbert and Arun, Bk K. and Asseryanis, Ella and Auerbach, Leo and Azzollini, Jacopo and Balmaña, Judith and Barile, Monica and Oi, Olopade and Barkardottir, Rb B. and de la Hoya, M. and Barrowdale, Daniel and Benitez, Javier and de Pauw, A. and Berger, Andreas and Sh, Teo and Berger, Raanan and Blanco, Am M. and Blazer, Kr R. and Blok, Mj J. and Velazquez, C. and Bonadona,  and Bonanni, B. and Bradbury, Ar R. and Brewer, C. and Buecher, B. and Buys, Ss S. and Caldes, T. and Caliebe, A. and Caligo,  and Campbell, I. and Caputo, Sm M. and Chiquette, J. and Chung, Wk K. and Claes, Kbm B. M. and Collée, Jm M. and Cook, J. and Davidson, R. and De Leeneer, K. and Delnatte, C. and Diez, O. and Ding, Yc C. and Ditsch, N. and Domchek, Sm M. and Dorfling, Cm M. and Dworniczak, B. and Eason, J. and Easton, Df F. and Singer, Df and Eeles, R. and Ehrencrona, H. and Ejlertsen, B. and Engel, C. and Engert, S. and Evans, Dg G. and Faivre, L. and Feliubadaló, L. and Vijai, J. and Ferrer, Sf F. and Foretova, L. and Fowler, J. and Frost, D. and Sutter, G. and Galvão, Hcr C. R. and Ganz, Pa A. and Garber, J. and Gauthier-Villars, M. and Gehrig, A. and Gerdes, Am-M. and Gesta, P. and Giannini, G. and Giraud, S. and Glendon, G. and Godwin, Ak K. and Greene, Mh H. and Gronwald, J. and Gutierrez-Barrera, A. and Hahnen, E. and Hauke, J. and Henderson, A. and Hentschel, J. and Hogervorst, Fbl B. L. and Honisch, E. and Imyanitov, En N. and Öfverholm, A. and Isaacs, C. and Izatt, L. and Izquierdo, A. and Jakubowska, A. and James, P. and Janavicius, R. and Jensen, Ub B. and John, Em M. and Kaczmarek, K. and Karlan, By Y. and Kast, K. and Kim, Sw-W. and Konstantopoulou, I. and Korach, J. and Laitman, Y. and Lasa, A. and Lasset, C. and Lázaro, C. and Lee, A. and Lee, Mh H. and Lester, J. and Lesueur, F. and Liljegren, A. and Lindor, Nm M. and Manoukian, S. and Longy, M. and Mari,  and Loud, Jt T. and Martínez-Bouzas, C. and Lu, Kh H. and Matrai, Z. and Lubinski, J. and Mebirouk, N. and Machackova, Eva and Meijers-Heijboer, Hej E. J. and Trainer, Ah H. and Meindl, A. and Tung, N. and Mensenkamp, Ar R. and van Asperen, Cj J. and Mickys, U. and Terry, Mb B. and Miller, A. and Investigators, KConFab and van der Hout, Ah H. and Montagna, M. and van der Kolk, Le E. and Teulé, A. and Moysich, Kb B. and Mulligan, Am M. and van der Luijt, Rb B. and Thomas, A. and Musinsky, J. and Van Heetvelde, M. and Neuhausen, Sl L. and Thull, Dl L. and Nevanlinna, H. and Varesco, L. and Ngeow, J. and Varon-Mateeva, R. and Tischkowitz, M. and Nguyen, Hp P. and Niederacher, D. and Vega, A. and Tognazzo, S. and Nielsen, Hr R. and Nielsen, Fc C. and Villarreal-Garza, C. and Toland, Ae E. and Nussbaum, Rl L. and Offit, K. and von Wachenfeldt, A. and Topka, S. and Ong, Kr-R. and Walker, L. and Osorio, A. and Papi, L. and Wang-Gohrke, S. and Papp, J. and Pasini, B. and Wappenschmidt, B. and Pedersen, Is S. and Peixoto, A. and Weber, Bhf H. F. and Peruga, N. and Peterlongo, P. and Yannoukakos, D. and Pohl, E. and Pradhan, N. and Yoon, Sy-Y. and Prajzendanc, K. and Zanzottera, C. and Prieur, F. and Pujol, P. and Zidan, J. and Radice, P. and Zorn, Kk K. and Ramus, Sj J. and Rantala, J. and Rashid, Mu U. and Rhiem, K. and Robson, M. and Rodriguez, Gc C. and Rogers, Mt T. and Rudaitis,  and Schmidt, Ay Y. and Schmutzler, Rk K. and Senter, L. and Shah, Pd D. and Sharma, P. and Side, Le E. and Simard, J. and Singer, C. F. and Skytte, Anne-Bine and Slavin, Tp P. and Snape, K. and Sobol, H. and Southey, M. and Steele, L. and Steinemann, D. and Sukiennicki, G. and Sutter, C. and Szabo, Ci I. and Tan, Yy Y. and Teixeira, Mr R. and Ar, Solano and Jn, Weitzel and Embrace,  and Fj, Couch and Gemo, Study Collaborators and Hebon,  and Hutten Selkirk, Cg G. and Selkirk, C. G. H. and Hulick, Pj J. and Chenevix-Trench, G. and Spurdle,  and Antoniou, Ac C. and Cimba, Consortium and Nathanson, Kl L. and Kl, Nathanson},
  month = {jan},
  title = {Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations},
  year = {2018}
}

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