Now showing items 1-5 of 5

    • Analysis of 153 115 patients with hematological malignancies refines the spectrum of familial risk. 

      Sud, A; Chattopadhyay, S; Thomsen, H; Sundquist, K; Sundquist, J; Houlston, RS; Hemminki, K (2019-09)
      Estimating familial cancer risks is clinically important in being able to discriminate between individuals in the population at differing risk for malignancy. To gain insight into the familial risk for the different ...
    • Multiple myeloma: family history and mortality in second primary cancers. 

      Chattopadhyay, S; Yu, H; Sud, A; Sundquist, J; Försti, A; Hemminki, A; Hemminki, K (2018-08-07)
    • 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 ...
    • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 

      Lee, Y-R; Khan, K; Armfield-Uhas, K; Srikanth, S; Thompson, NA; Pardo, M; Yu, L; Norris, JW; Peng, Y; Gripp, KW; Aleck, KA; Li, C; Spence, E; Choi, T-I; Kwon, SJ; Park, H-M; Yu, D; Do Heo, W; Mooney, MR; Baig, SM; Wentzensen, IM; Telegrafi, A; McWalter, K; Moreland, T; Roadhouse, C; Ramsey, K; Lyons, MJ; Skinner, C; Alexov, E; Katsanis, N; Stevenson, RE; Choudhary, JS; Adams, DJ; Kim, C-H; Davis, EE; Schwartz, CE (2020-07-23)
      Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
    • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. 

      Kuchenbaecker, KB; Hopper, JL; Barnes, DR; Phillips, K-A; Mooij, TM; Roos-Blom, M-J; Jervis, S; van Leeuwen, FE; Milne, RL; Andrieu, N; Goldgar, DE; Terry, MB; Rookus, MA; Easton, DF; Antoniou, AC; BRCA1 and BRCA2 Cohort Consortium; McGuffog, L; Evans, DG; Barrowdale, D; Frost, D; Adlard, J; Ong, K-R; Izatt, L; Tischkowitz, M; Eeles, R; Davidson, R; Hodgson, S; Ellis, S; Nogues, C; Lasset, C; Stoppa-Lyonnet, D; Fricker, J-P; Faivre, L; Berthet, P; Hooning, MJ; van der Kolk, LE; Kets, CM; Adank, MA; John, EM; Chung, WK; Andrulis, IL; Southey, M; Daly, MB; Buys, SS; Osorio, A; Engel, C; Kast, K; Schmutzler, RK; Caldes, T; Jakubowska, A; Simard, J; Friedlander, ML; McLachlan, S-A; Machackova, E; Foretova, L; Tan, YY; Singer, CF; Olah, E; Gerdes, A-M; Arver, B; Olsson, H (2017-06)
      Importance:The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives:To estimate age-specific risks of breast, ovarian, and contralateral breast cancer ...