Now showing items 1-2 of 2

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

      Rebbeck, TR; Friebel, TM; Friedman, E; Hamann, U; Huo, D; Kwong, A; Olah, E; Olopade, OI; Solano, AR; Teo, S-H; Thomassen, M; Weitzel, JN; Chan, TL; Couch, FJ; Goldgar, DE; Kruse, TA; Palmero, EI; Park, SK; Torres, D; van Rensburg, EJ; McGuffog, L; Parsons, MT; Leslie, G; Aalfs, CM; Abugattas, J; Adlard, J; Agata, S; Aittomäki, K; Andrews, L; Andrulis, IL; Arason, A; Arnold, N; Arun, BK; Asseryanis, E; Auerbach, L; Azzollini, J; Balmaña, J; Barile, M; Barkardottir, RB; Barrowdale, D; Benitez, J; Berger, A; Berger, R; Blanco, AM; Blazer, KR; Blok, MJ; Bonadona, V; Bonanni, B; Bradbury, AR; Brewer, C; Buecher, B; Buys, SS; Caldes, T; Caliebe, A; Caligo, MA; Campbell, I; Caputo, SM; Chiquette, J; Chung, WK; Claes, KBM; Collée, JM; Cook, J; Davidson, R; de la Hoya, M; De Leeneer, K; de Pauw, A; Delnatte, C; Diez, O; Ding, YC; Ditsch, N; Domchek, SM; Dorfling, CM; Velazquez, C; Dworniczak, B; Eason, J; Easton, DF; Eeles, R; Ehrencrona, H; Ejlertsen, B; EMBRACE; Engel, C; Engert, S; Evans, DG; Faivre, L; Feliubadaló, L; Ferrer, SF; Foretova, L; Fowler, J; Frost, D; Galvão, HCR; Ganz, PA; Garber, J; Gauthier-Villars, M; Gehrig, A; GEMO Study Collaborators; Gerdes, A-M; Gesta, P; Giannini, G; Giraud, S; Glendon, G; Godwin, AK; Greene, MH; Gronwald, J; Gutierrez-Barrera, A; Hahnen, E; Hauke, J; HEBON; Henderson, A; Hentschel, J; Hogervorst, FBL; Honisch, E; Imyanitov, EN; Isaacs, C; Izatt, L; Izquierdo, A; Jakubowska, A; James, P; Janavicius, R; Jensen, UB; John, EM; Vijai, J; Kaczmarek, K; Karlan, BY; Kast, K; Investigators, K; Kim, S-W; Konstantopoulou, I; Korach, J; Laitman, Y; Lasa, A; Lasset, C; Lázaro, C; Lee, A; Lee, MH; Lester, J; Lesueur, F; Liljegren, A; Lindor, NM; Longy, M; Loud, JT; Lu, KH; Lubinski, J; Machackova, E; Manoukian, S; Mari, V; Martínez-Bouzas, C; Matrai, Z; Mebirouk, N; Meijers-Heijboer, HEJ; Meindl, A; Mensenkamp, AR; Mickys, U; Miller, A; Montagna, M; Moysich, KB; Mulligan, AM; Musinsky, J; Neuhausen, SL; Nevanlinna, H; Ngeow, J; Nguyen, HP; Niederacher, D; Nielsen, HR; Nielsen, FC; Nussbaum, RL; Offit, K; Öfverholm, A; Ong, K-R; Osorio, A; Papi, L; Papp, J; Pasini, B; Pedersen, IS; Peixoto, A; Peruga, N; Peterlongo, P; Pohl, E; Pradhan, N; Prajzendanc, K; Prieur, F; Pujol, P; Radice, P; Ramus, SJ; Rantala, J; Rashid, MU; Rhiem, K; Robson, M; Rodriguez, GC; Rogers, MT; Rudaitis, V; Schmidt, AY; Schmutzler, RK; Senter, L; Shah, PD; Sharma, P; Side, LE; Simard, J; Singer, CF; Skytte, A-B; Slavin, TP; Snape, K; Sobol, H; Southey, M; Steele, L; Steinemann, D; Sukiennicki, G; Sutter, C; Szabo, CI; Tan, YY; Teixeira, MR; Terry, MB; Teulé, A; Thomas, A; Thull, DL; Tischkowitz, M; Tognazzo, S; Toland, AE; Topka, S; Trainer, AH; Tung, N; van Asperen, CJ; van der Hout, AH; van der Kolk, LE; van der Luijt, RB; Van Heetvelde, M; Varesco, L; Varon-Mateeva, R; Vega, A; Villarreal-Garza, C; von Wachenfeldt, A; Walker, L; Wang-Gohrke, S; Wappenschmidt, B; Weber, BHF; Yannoukakos, D; Yoon, S-Y; Zanzottera, C; Zidan, J; Zorn, KK; Hutten Selkirk, CG; Hulick, PJ; Chenevix-Trench, G; Spurdle, AB; Antoniou, AC; Nathanson, KL (2018-05)
      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 ...
    • Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification. 

      Ward, DG; Gordon, NS; Boucher, RH; Pirrie, SJ; Baxter, L; Ott, S; Silcock, L; Whalley, CM; Stockton, JD; Beggs, AD; Griffiths, M; Abbotts, B; Ijakipour, H; Latheef, FN; Robinson, RA; White, AJ; James, ND; Zeegers, MP; Cheng, KK; Bryan, RT (2019-09)
      Objectives To develop a focused panel of somatic mutations (SMs) present in the majority of urothelial bladder cancers (UBCs), to investigate the diagnostic and prognostic utility of this panel, and to compare the ...