Now showing items 1-18 of 18

    • Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. 

      Schmidt, MK; Hogervorst, F; van Hien, R; Cornelissen, S; Broeks, A; Adank, MA; Meijers, H; Waisfisz, Q; Hollestelle, A; Schutte, M; van den Ouweland, A; Hooning, M; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Antoniou, AC; Arndt, V; Bermisheva, M; Bogdanova, NV; Bolla, MK; Brauch, H; Brenner, H; Brüning, T; Burwinkel, B; Chang-Claude, J; Chenevix-Trench, G; Couch, FJ; Cox, A; Cross, SS; Czene, K; Dunning, AM; Fasching, PA; Figueroa, J; Fletcher, O; Flyger, H; Galle, E; García-Closas, M; Giles, GG; Haeberle, L; Hall, P; Hillemanns, P; Hopper, JL; Jakubowska, A; John, EM; Jones, M; Khusnutdinova, E; Knight, JA; Kosma, V-M; Kristensen, V; Lee, A; Lindblom, A; Lubinski, J; Mannermaa, A; Margolin, S; Meindl, A; Milne, RL; Muranen, TA; Newcomb, PA; Offit, K; Park-Simon, T-W; Peto, J; Pharoah, PDP; Robson, M; Rudolph, A; Sawyer, EJ; Schmutzler, RK; Seynaeve, C; Soens, J; Southey, MC; Spurdle, AB; Surowy, H; Swerdlow, A; Tollenaar, RAEM; Tomlinson, I; Trentham-Dietz, A; Vachon, C; Wang, Q; Whittemore, AS; Ziogas, A; van der Kolk, L; Nevanlinna, H; Dörk, T; Bojesen, S; Easton, DF (2016-08)
      PURPOSE:CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its ...
    • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. 

      Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemaçon, A; Adlard, J; Aittomäki, K; Andrulis, IL; Arason, A; Arnold, N; Arun, BK; Azzollini, J; Bane, A; Barjhoux, L; Barrowdale, D; Benitez, J; Berthet, P; Blok, MJ; Bobolis, K; Bonadona, V; Bonanni, B; Bradbury, AR; Brewer, C; Buecher, B; Buys, SS; Caligo, MA; Chiquette, J; Chung, WK; Claes, KBM; Daly, MB; Damiola, F; Davidson, R; De la Hoya, M; De Leeneer, K; Diez, O; Ding, YC; Dolcetti, R; Domchek, SM; Dorfling, CM; Eccles, D; Eeles, R; Einbeigi, Z; Ejlertsen, B; EMBRACE; Engel, C; Gareth Evans, D; Feliubadalo, L; Foretova, L; Fostira, F; Foulkes, WD; Fountzilas, G; Friedman, E; Frost, D; Ganschow, P; Ganz, PA; Garber, J; Gayther, SA; GEMO Study Collaborators; Gerdes, A-M; Glendon, G; Godwin, AK; Goldgar, DE; Greene, MH; Gronwald, J; Hahnen, E; Hamann, U; Hansen, TVO; Hart, S; Hays, JL; HEBON; Hogervorst, FBL; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Jakubowska, A; James, P; Janavicius, R; Jensen, UB; John, EM; Joseph, V; Just, W; Kaczmarek, K; Karlan, BY; KConFab Investigators; Kets, CM; Kirk, J; Kriege, M; Laitman, Y; Laurent, M; Lazaro, C; Leslie, G; Lester, J; Lesueur, F; Liljegren, A; Loman, N; Loud, JT; Manoukian, S; Mariani, M; Mazoyer, S; McGuffog, L; Meijers-Heijboer, HEJ; Meindl, A; Miller, A; Montagna, M; Mulligan, AM; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nussbaum, RL; Olah, E; Olopade, OI; Ong, K-R; Oosterwijk, JC; Osorio, A; Papi, L; Park, SK; Pedersen, IS; Peissel, B; Segura, PP; Peterlongo, P; Phelan, CM; Radice, P; Rantala, J; Rappaport-Fuerhauser, C; Rennert, G; Richardson, A; Robson, M; Rodriguez, GC; Rookus, MA; Schmutzler, RK; Sevenet, N; Shah, PD; Singer, CF; Slavin, TP; Snape, K; Sokolowska, J; Sønderstrup, IMH; Southey, M; Spurdle, AB; Stadler, Z; Stoppa-Lyonnet, D; Sukiennicki, G; Sutter, C; Tan, Y; Tea, M-K; Teixeira, MR; Teulé, A; Teo, S-H; Terry, MB; Thomassen, M; Tihomirova, L; Tischkowitz, M; Tognazzo, S; Toland, AE; Tung, N; van den Ouweland, AMW; van der Luijt, RB; van Engelen, K; van Rensburg, EJ; Varon-Mateeva, R; Wappenschmidt, B; Wijnen, JT; Rebbeck, T; Chenevix-Trench, G; Offit, K; Couch, FJ; Nord, S; Easton, DF; Antoniou, AC; Simard, J (2017-01)
      PURPOSE:Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants ...
    • Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls. 

      Saya, S; Killick, E; Thomas, S; Taylor, N; Bancroft, EK; Rothwell, J; Benafif, S; Dias, A; Mikropoulos, C; Pope, J; Chamberlain, A; Gunapala, R; SIGNIFY Study Steering Committee; Izatt, L; Side, L; Walker, L; Tomkins, S; Cook, J; Barwell, J; Wiles, V; Limb, L; Eccles, D; Leach, MO; Shanley, S; Gilbert, FJ; Hanson, H; Gallagher, D; Rajashanker, B; Whitehouse, RW; Koh, D-M; Sohaib, SA; Evans, DG; Eeles, RA (2017-07)
      In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to ...
    • Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. 

      Kuchenbaecker, KB; McGuffog, L; Barrowdale, D; Lee, A; Soucy, P; Dennis, J; Domchek, SM; Robson, M; Spurdle, AB; Ramus, SJ; Mavaddat, N; Terry, MB; Neuhausen, SL; Schmutzler, RK; Simard, J; Pharoah, PDP; Offit, K; Couch, FJ; Chenevix-Trench, G; Easton, DF; Antoniou, AC (2017-07-01)
      Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these ...
    • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 

      Teerlink, CC; Leongamornlert, D; Dadaev, T; Thomas, A; Farnham, J; Stephenson, RA; Riska, S; McDonnell, SK; Schaid, DJ; Catalona, WJ; Zheng, SL; Cooney, KA; Ray, AM; Zuhlke, KA; Lange, EM; Giles, GG; Southey, MC; Fitzgerald, LM; Rinckleb, A; Luedeke, M; Maier, C; Stanford, JL; Ostrander, EA; Kaikkonen, EM; Sipeky, C; Tammela, T; Schleutker, J; Wiley, KE; Isaacs, SD; Walsh, PC; Isaacs, WB; Xu, J; Cancel-Tassin, G; Cussenot, O; Mandal, D; Laurie, C; Laurie, C; PRACTICAL consortium; International Consortium for Prostate Cancer Genetics; Thibodeau, SN; Eeles, RA; Kote-Jarai, Z; Cannon-Albright, L (2016-08)
      Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer ...
    • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 

      Couch, FJ; Kuchenbaecker, KB; Michailidou, K; Mendoza-Fandino, GA; Nord, S; Lilyquist, J; Olswold, C; Hallberg, E; Agata, S; Ahsan, H; Aittomäki, K; Ambrosone, C; Andrulis, IL; Anton-Culver, H; Arndt, V; Arun, BK; Arver, B; Barile, M; Barkardottir, RB; Barrowdale, D; Beckmann, L; Beckmann, MW; Benitez, J; Blank, SV; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Bolla, MK; Bonanni, B; Brauch, H; Brenner, H; Burwinkel, B; Buys, SS; Caldes, T; Caligo, MA; Canzian, F; Carpenter, J; Chang-Claude, J; Chanock, SJ; Chung, WK; Claes, KBM; Cox, A; Cross, SS; Cunningham, JM; Czene, K; Daly, MB; Damiola, F; Darabi, H; de la Hoya, M; Devilee, P; Diez, O; Ding, YC; Dolcetti, R; Domchek, SM; Dorfling, CM; Dos-Santos-Silva, I; Dumont, M; Dunning, AM; Eccles, DM; Ehrencrona, H; Ekici, AB; Eliassen, H; Ellis, S; Fasching, PA; Figueroa, J; Flesch-Janys, D; Försti, A; Fostira, F; Foulkes, WD; Friebel, T; Friedman, E; Frost, D; Gabrielson, M; Gammon, MD; Ganz, PA; Gapstur, SM; Garber, J; Gaudet, MM; Gayther, SA; Gerdes, A-M; Ghoussaini, M; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Greene, MH; Gronwald, J; Guénel, P; Gunter, M; Haeberle, L; Haiman, CA; Hamann, U; Hansen, TVO; Hart, S; Healey, S; Heikkinen, T; Henderson, BE; Herzog, J; Hogervorst, FBL; Hollestelle, A; Hooning, MJ; Hoover, RN; Hopper, JL; Humphreys, K; Hunter, DJ; Huzarski, T; Imyanitov, EN; Isaacs, C; Jakubowska, A; James, P; Janavicius, R; Jensen, UB; John, EM; Jones, M; Kabisch, M; Kar, S; Karlan, BY; Khan, S; Khaw, K-T; Kibriya, MG; Knight, JA; Ko, Y-D; Konstantopoulou, I; Kosma, V-M; Kristensen, V; Kwong, A; Laitman, Y; Lambrechts, D; Lazaro, C; Lee, E; Le Marchand, L; Lester, J; Lindblom, A; Lindor, N; Lindstrom, S; Liu, J; Long, J; Lubinski, J; Mai, PL; Makalic, E; Malone, KE; Mannermaa, A; Manoukian, S; Margolin, S; Marme, F; Martens, JWM; McGuffog, L; Meindl, A; Miller, A; Milne, RL; Miron, P; Montagna, M; Mazoyer, S; Mulligan, AM; Muranen, TA; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nordestgaard, BG; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olson, JE; Osorio, A; Park, SK; Peeters, PH; Peissel, B; Peterlongo, P; Peto, J; Phelan, CM; Pilarski, R; Poppe, B; Pylkäs, K; Radice, P; Rahman, N; Rantala, J; Rappaport, C; Rennert, G; Richardson, A; Robson, M; Romieu, I; Rudolph, A; Rutgers, EJ; Sanchez, M-J; Santella, RM; Sawyer, EJ; Schmidt, DF; Schmidt, MK; Schmutzler, RK; Schumacher, F; Scott, R; Senter, L; Sharma, P; Simard, J; Singer, CF; Sinilnikova, OM; Soucy, P; Southey, M; Steinemann, D; Stenmark-Askmalm, M; Stoppa-Lyonnet, D; Swerdlow, A; Szabo, CI; Tamimi, R; Tapper, W; Teixeira, MR; Teo, S-H; Terry, MB; Thomassen, M; Thompson, D; Tihomirova, L; Toland, AE; Tollenaar, RAEM; Tomlinson, I; Truong, T; Tsimiklis, H; Teulé, A; Tumino, R; Tung, N; Turnbull, C; Ursin, G; van Deurzen, CHM; van Rensburg, EJ; Varon-Mateeva, R; Wang, Z; Wang-Gohrke, S; Weiderpass, E; Weitzel, JN; Whittemore, A; Wildiers, H; Winqvist, R; Yang, XR; Yannoukakos, D; Yao, S; Zamora, MP; Zheng, W; Hall, P; Kraft, P; Vachon, C; Slager, S; Chenevix-Trench, G; Pharoah, PDP; Monteiro, AAN; García-Closas, M; Easton, DF; Antoniou, AC (2016-04-27)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ...
    • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 

      Zeng, C; Guo, X; Long, J; Kuchenbaecker, KB; Droit, A; Michailidou, K; Ghoussaini, M; Kar, S; Freeman, A; Hopper, JL; Milne, RL; Bolla, MK; Wang, Q; Dennis, J; Agata, S; Ahmed, S; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arason, A; Arndt, V; Arun, BK; Arver, B; Bacot, F; Barrowdale, D; Baynes, C; Beeghly-Fadiel, A; Benitez, J; Bermisheva, M; Blomqvist, C; Blot, WJ; Bogdanova, NV; Bojesen, SE; Bonanni, B; Borresen-Dale, A-L; Brand, JS; Brauch, H; Brennan, P; Brenner, H; Broeks, A; Brüning, T; Burwinkel, B; Buys, SS; Cai, Q; Caldes, T; Campbell, I; Carpenter, J; Chang-Claude, J; Choi, J-Y; Claes, KBM; Clarke, C; Cox, A; Cross, SS; Czene, K; Daly, MB; de la Hoya, M; De Leeneer, K; Devilee, P; Diez, O; Domchek, SM; Doody, M; Dorfling, CM; Dörk, T; Dos-Santos-Silva, I; Dumont, M; Dwek, M; Dworniczak, B; Egan, K; Eilber, U; Einbeigi, Z; Ejlertsen, B; Ellis, S; Frost, D; Lalloo, F; EMBRACE; Fasching, PA; Figueroa, J; Flyger, H; Friedlander, M; Friedman, E; Gambino, G; Gao, Y-T; Garber, J; García-Closas, M; Gehrig, A; Damiola, F; Lesueur, F; Mazoyer, S; Stoppa-Lyonnet, D; behalf of GEMO Study Collaborators; Giles, GG; Godwin, AK; Goldgar, DE; González-Neira, A; Greene, MH; Guénel, P; Haeberle, L; Haiman, CA; Hallberg, E; Hamann, U; Hansen, TVO; Hart, S; Hartikainen, JM; Hartman, M; Hassan, N; Healey, S; Hogervorst, FBL; Verhoef, S; HEBON; Hendricks, CB; Hillemanns, P; Hollestelle, A; Hulick, PJ; Hunter, DJ; Imyanitov, EN; Isaacs, C; Ito, H; Jakubowska, A; Janavicius, R; Jaworska-Bieniek, K; Jensen, UB; John, EM; Joly Beauparlant, C; Jones, M; Kabisch, M; Kang, D; Karlan, BY; Kauppila, S; Kerin, MJ; Khan, S; Khusnutdinova, E; Knight, JA; Konstantopoulou, I; Kraft, P; Kwong, A; Laitman, Y; Lambrechts, D; Lazaro, C; Le Marchand, L; Lee, CN; Lee, MH; Lester, J; Li, J; Liljegren, A; Lindblom, A; Lophatananon, A; Lubinski, J; Mai, PL; Mannermaa, A; Manoukian, S; Margolin, S; Marme, F; Matsuo, K; McGuffog, L; Meindl, A; Menegaux, F; Montagna, M; Muir, K; Mulligan, AM; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Newcomb, PA; Nord, S; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olswold, C; Osorio, A; Papi, L; Park-Simon, T-W; Paulsson-Karlsson, Y; Peeters, S; Peissel, B; Peterlongo, P; Peto, J; Pfeiler, G; Phelan, CM; Presneau, N; Radice, P; Rahman, N; Ramus, SJ; Rashid, MU; Rennert, G; Rhiem, K; Rudolph, A; Salani, R; Sangrajrang, S; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Schoemaker, MJ; Schürmann, P; Seynaeve, C; Shen, C-Y; Shrubsole, MJ; Shu, X-O; Sigurdson, A; Singer, CF; Slager, S; Soucy, P; Southey, M; Steinemann, D; Swerdlow, A; Szabo, CI; Tchatchou, S; Teixeira, MR; Teo, SH; Terry, MB; Tessier, DC; Teulé, A; Thomassen, M; Tihomirova, L; Tischkowitz, M; Toland, AE; Tung, N; Turnbull, C; van den Ouweland, AMW; van Rensburg, EJ; Ven den Berg, D; Vijai, J; Wang-Gohrke, S; Weitzel, JN; Whittemore, AS; Winqvist, R; Wong, TY; Wu, AH; Yannoukakos, D; Yu, J-C; Pharoah, PDP; Hall, P; Chenevix-Trench, G; KConFab; AOCS Investigators; Dunning, AM; Simard, J; Couch, FJ; Antoniou, AC; Easton, DF; Zheng, W (2016-06-21)
      BACKGROUND:Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD:We performed a fine-scale ...
    • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. 

      Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; Lindström, S; Hui, S; Lemaçon, A; Soucy, P; Dennis, J; Jiang, X; Rostamianfar, A; Finucane, H; Bolla, MK; McGuffog, L; Wang, Q; Aalfs, CM; ABCTB Investigators; Adams, M; Adlard, J; Agata, S; Ahmed, S; Ahsan, H; Aittomäki, K; Al-Ejeh, F; Allen, J; Ambrosone, CB; Amos, CI; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Arnold, N; Aronson, KJ; Auber, B; Auer, PL; Ausems, MGEM; Azzollini, J; Bacot, F; Balmaña, J; Barile, M; Barjhoux, L; Barkardottir, RB; Barrdahl, M; Barnes, D; Barrowdale, D; Baynes, C; Beckmann, MW; Benitez, J; Bermisheva, M; Bernstein, L; Bignon, Y-J; Blazer, KR; Blok, MJ; Blomqvist, C; Blot, W; Bobolis, K; Boeckx, B; Bogdanova, NV; Bojesen, A; Bojesen, SE; Bonanni, B; Børresen-Dale, A-L; Bozsik, A; Bradbury, AR; Brand, JS; Brauch, H; Brenner, H; Bressac-de Paillerets, B; Brewer, C; Brinton, L; Broberg, P; Brooks-Wilson, A; Brunet, J; Brüning, T; Burwinkel, B; Buys, SS; Byun, J; Cai, Q; Caldés, T; Caligo, MA; Campbell, I; Canzian, F; Caron, O; Carracedo, A; Carter, BD; Castelao, JE; Castera, L; Caux-Moncoutier, V; Chan, SB; Chang-Claude, J; Chanock, SJ; Chen, X; Cheng, T-YD; Chiquette, J; Christiansen, H; Claes, KBM; Clarke, CL; Conner, T; Conroy, DM; Cook, J; Cordina-Duverger, E; Cornelissen, S; Coupier, I; Cox, A; Cox, DG; Cross, SS; Cuk, K; Cunningham, JM; Czene, K; Daly, MB; Damiola, F; Darabi, H; Davidson, R; De Leeneer, K; Devilee, P; Dicks, E; Diez, O; Ding, YC; Ditsch, N; Doheny, KF; Domchek, SM; Dorfling, CM; Dörk, T; Dos-Santos-Silva, I; Dubois, S; Dugué, P-A; Dumont, M; Dunning, AM; Durcan, L; Dwek, M; Dworniczak, B; Eccles, D; Eeles, R; Ehrencrona, H; Eilber, U; Ejlertsen, B; Ekici, AB; Eliassen, AH; EMBRACE; Engel, C; Eriksson, M; Fachal, L; Faivre, L; Fasching, PA; Faust, U; Figueroa, J; Flesch-Janys, D; Fletcher, O; Flyger, H; Foulkes, WD; Friedman, E; Fritschi, L; Frost, D; Gabrielson, M; Gaddam, P; Gammon, MD; Ganz, PA; Gapstur, SM; Garber, J; Garcia-Barberan, V; García-Sáenz, JA; Gaudet, MM; Gauthier-Villars, M; Gehrig, A; GEMO Study Collaborators; Georgoulias, V; Gerdes, A-M; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Goodfellow, P; Greene, MH; Alnæs, GIG; Grip, M; Gronwald, J; Grundy, A; Gschwantler-Kaulich, D; Guénel, P; Guo, Q; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hallberg, E; Hamann, U; Hamel, N; Hankinson, S; Hansen, TVO; Harrington, P; Hart, SN; Hartikainen, JM; Healey, CS; HEBON; Hein, A; Helbig, S; Henderson, A; Heyworth, J; Hicks, B; Hillemanns, P; Hodgson, S; Hogervorst, FB; Hollestelle, A; Hooning, MJ; Hoover, B; Hopper, JL; Hu, C; Huang, G; Hulick, PJ; Humphreys, K; Hunter, DJ; Imyanitov, EN; Isaacs, C; Iwasaki, M; Izatt, L; Jakubowska, A; James, P; Janavicius, R; Janni, W; Jensen, UB; John, EM; Johnson, N; Jones, K; Jones, M; Jukkola-Vuorinen, A; Kaaks, R; Kabisch, M; Kaczmarek, K; Kang, D; Kast, K; kConFab/AOCS Investigators; Keeman, R; Kerin, MJ; Kets, CM; Keupers, M; Khan, S; Khusnutdinova, E; Kiiski, JI; Kim, S-W; Knight, JA; Konstantopoulou, I; Kosma, V-M; Kristensen, VN; Kruse, TA; Kwong, A; Lænkholm, A-V; Laitman, Y; Lalloo, F; Lambrechts, D; Landsman, K; Lasset, C; Lazaro, C; Le Marchand, L; Lecarpentier, J; Lee, A; Lee, E; Lee, JW; Lee, MH; Lejbkowicz, F; Lesueur, F; Li, J; Lilyquist, J; Lincoln, A; Lindblom, A; Lissowska, J; Lo, W-Y; Loibl, S; Long, J; Loud, JT; Lubinski, J; Luccarini, C; Lush, M; MacInnis, RJ; Maishman, T; Makalic, E; Kostovska, IM; Malone, KE; Manoukian, S; Manson, JE; Margolin, S; Martens, JWM; Martinez, ME; Matsuo, K; Mavroudis, D; Mazoyer, S; McLean, C; Meijers-Heijboer, H; Menéndez, P; Meyer, J; Miao, H; Miller, A; Miller, N; Mitchell, G; Montagna, M; Muir, K; Mulligan, AM; Mulot, C; Nadesan, S; Nathanson, KL; NBSC Collaborators; Neuhausen, SL; Nevanlinna, H; Nevelsteen, I; Niederacher, D; Nielsen, SF; Nordestgaard, BG; Norman, A; Nussbaum, RL; Olah, E; Olopade, OI; Olson, JE; Olswold, C; Ong, K-R; Oosterwijk, JC; Orr, N; Osorio, A; Pankratz, VS; Papi, L; Park-Simon, T-W; Paulsson-Karlsson, Y; Lloyd, R; Pedersen, IS; Peissel, B; Peixoto, A; Perez, JIA; Peterlongo, P; Peto, J; Pfeiler, G; Phelan, CM; Pinchev, M; Plaseska-Karanfilska, D; Poppe, B; Porteous, ME; Prentice, R; Presneau, N; Prokofieva, D; Pugh, E; Pujana, MA; Pylkäs, K; Rack, B; Radice, P; Rahman, N; Rantala, J; Rappaport-Fuerhauser, C; Rennert, G; Rennert, HS; Rhenius, V; Rhiem, K; Richardson, A; Rodriguez, GC; Romero, A; Romm, J; Rookus, MA; Rudolph, A; Ruediger, T; Saloustros, E; Sanders, J; Sandler, DP; Sangrajrang, S; Sawyer, EJ; Schmidt, DF; Schoemaker, MJ; Schumacher, F; Schürmann, P; Schwentner, L; Scott, C; Scott, RJ; Seal, S; Senter, L; Seynaeve, C; Shah, M; Sharma, P; Shen, C-Y; Sheng, X; Shimelis, H; Shrubsole, MJ; Shu, X-O; Side, LE; Singer, CF; Sohn, C; Southey, MC; Spinelli, JJ; Spurdle, AB; Stegmaier, C; Stoppa-Lyonnet, D; Sukiennicki, G; Surowy, H; Sutter, C; Swerdlow, A; Szabo, CI; Tamimi, RM; Tan, YY; Taylor, JA; Tejada, M-I; Tengström, M; Teo, SH; Terry, MB; Tessier, DC; Teulé, A; Thöne, K; Thull, DL; Tibiletti, MG; Tihomirova, L; Tischkowitz, M; Toland, AE; Tollenaar, RAEM; Tomlinson, I; Tong, L; Torres, D; Tranchant, M; Truong, T; Tucker, K; Tung, N; Tyrer, J; Ulmer, H-U; Vachon, C; van Asperen, CJ; Van Den Berg, D; van den Ouweland, AMW; van Rensburg, EJ; Varesco, L; Varon-Mateeva, R; Vega, A; Viel, A; Vijai, J; Vincent, D; Vollenweider, J; Walker, L; Wang, Z; Wang-Gohrke, S; Wappenschmidt, B; Weinberg, CR; Weitzel, JN; Wendt, C; Wesseling, J; Whittemore, AS; Wijnen, JT; Willett, W; Winqvist, R; Wolk, A; Wu, AH; Xia, L; Yang, XR; Yannoukakos, D; Zaffaroni, D; Zheng, W; Zhu, B; Ziogas, A; Ziv, E; Zorn, KK; Gago-Dominguez, M; Mannermaa, A; Olsson, H; Teixeira, MR; Stone, J; Offit, K; Ottini, L; Park, SK; Thomassen, M; Hall, P; Meindl, A; Schmutzler, RK; Droit, A; Bader, GD; Pharoah, PDP; Couch, FJ; Easton, DF; Kraft, P; Chenevix-Trench, G; García-Closas, M; Schmidt, MK; Antoniou, AC; Simard, J (2017-12)
      Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ...
    • Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients. 

      Andreassen, CN; Rosenstein, BS; Kerns, SL; Ostrer, H; De Ruysscher, D; Cesaretti, JA; Barnett, GC; Dunning, AM; Dorling, L; West, CML; Burnet, NG; Elliott, R; Coles, C; Hall, E; Fachal, L; Vega, A; Gómez-Caamaño, A; Talbot, CJ; Symonds, RP; De Ruyck, K; Thierens, H; Ost, P; Chang-Claude, J; Seibold, P; Popanda, O; Overgaard, M; Dearnaley, D; Sydes, MR; Azria, D; Koch, CA; Parliament, M; Blackshaw, M; Sia, M; Fuentes-Raspall, MJ; Ramon Y Cajal, T; Barnadas, A; Vesprini, D; Gutiérrez-Enríquez, S; Mollà, M; Díez, O; Yarnold, JR; Overgaard, J; Bentzen, SM; Alsner, J; International Radiogenomics Consortium (RgC) (2016-12)
      Several small studies have indicated that the ATM rs1801516 SNP is associated with risk of normal tissue toxicity after radiotherapy. However, the findings have not been consistent. In order to test this SNP in a well-powered ...
    • Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study. 

      Schoemaker, MJ; Jones, ME; Higgins, CD; Wright, AF; United Kingdom Clinical Cytogenetics Group; Swerdlow, AJ (2019-03)
      A balanced robertsonian translocation (rob) results from fusion of 2 acrocentric chromosomes. Carriers are phenotypically normal and are often diagnosed because of recurrent miscarriages, infertility, or aneuploid offspring. ...
    • Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study. 

      Schoemaker, MJ; Jones, ME; Higgins, CD; Wright, AF; UK Clinical Cytogenetics Group; Swerdlow, AJ (2019-09)
      The constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple ...
    • De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 

      Calpena, E; Hervieu, A; Kaserer, T; Swagemakers, SMA; Goos, JAC; Popoola, O; Ortiz-Ruiz, MJ; Barbaro-Dieber, T; Bownass, L; Brilstra, EH; Brimble, E; Foulds, N; Grebe, TA; Harder, AVE; Lees, MM; Monaghan, KG; Newbury-Ecob, RA; Ong, K-R; Osio, D; Reynoso Santos, FJ; Ruzhnikov, MRZ; Telegrafi, A; van Binsbergen, E; van Dooren, MF; Deciphering Developmental Disorders Study; van der Spek, PJ; Blagg, J; Twigg, SRF; Mathijssen, IMJ; Clarke, PA; Wilkie, AOM (2019-04)
      The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or ...
    • Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. 

      Lecarpentier, J; Silvestri, V; Kuchenbaecker, KB; Barrowdale, D; Dennis, J; McGuffog, L; Soucy, P; Leslie, G; Rizzolo, P; Navazio, AS; Valentini, V; Zelli, V; Lee, A; Amin Al Olama, A; Tyrer, JP; Southey, M; John, EM; Conner, TA; Goldgar, DE; Buys, SS; Janavicius, R; Steele, L; Ding, YC; Neuhausen, SL; Hansen, TVO; Osorio, A; Weitzel, JN; Toss, A; Medici, V; Cortesi, L; Zanna, I; Palli, D; Radice, P; Manoukian, S; Peissel, B; Azzollini, J; Viel, A; Cini, G; Damante, G; Tommasi, S; Peterlongo, P; Fostira, F; Hamann, U; Evans, DG; Henderson, A; Brewer, C; Eccles, D; Cook, J; Ong, K-R; Walker, L; Side, LE; Porteous, ME; Davidson, R; Hodgson, S; Frost, D; Adlard, J; Izatt, L; Eeles, R; Ellis, S; Tischkowitz, M; EMBRACE; Godwin, AK; Meindl, A; Gehrig, A; Dworniczak, B; Sutter, C; Engel, C; Niederacher, D; Steinemann, D; Hahnen, E; Hauke, J; Rhiem, K; Kast, K; Arnold, N; Ditsch, N; Wang-Gohrke, S; Wappenschmidt, B; Wand, D; Lasset, C; Stoppa-Lyonnet, D; Belotti, M; Damiola, F; Barjhoux, L; Mazoyer, S; GEMO Study Collaborators; Van Heetvelde, M; Poppe, B; De Leeneer, K; Claes, KBM; de la Hoya, M; Garcia-Barberan, V; Caldes, T; Perez Segura, P; Kiiski, JI; Aittomäki, K; Khan, S; Nevanlinna, H; van Asperen, CJ; HEBON; Vaszko, T; Kasler, M; Olah, E; Balmaña, J; Gutiérrez-Enríquez, S; Diez, O; Teulé, A; Izquierdo, A; Darder, E; Brunet, J; Del Valle, J; Feliubadalo, L; Pujana, MA; Lazaro, C; Arason, A; Agnarsson, BA; Johannsson, OT; Barkardottir, RB; Alducci, E; Tognazzo, S; Montagna, M; Teixeira, MR; Pinto, P; Spurdle, AB; Holland, H; KConFab Investigators; Lee, JW; Lee, MH; Lee, J; Kim, S-W; Kang, E; Kim, Z; Sharma, P; Rebbeck, TR; Vijai, J; Robson, M; Lincoln, A; Musinsky, J; Gaddam, P; Tan, YY; Berger, A; Singer, CF; Loud, JT; Greene, MH; Mulligan, AM; Glendon, G; Andrulis, IL; Toland, AE; Senter, L; Bojesen, A; Nielsen, HR; Skytte, A-B; Sunde, L; Jensen, UB; Pedersen, IS; Krogh, L; Kruse, TA; Caligo, MA; Yoon, S-Y; Teo, S-H; von Wachenfeldt, A; Huo, D; Nielsen, SM; Olopade, OI; Nathanson, KL; Domchek, SM; Lorenchick, C; Jankowitz, RC; Campbell, I; James, P; Mitchell, G; Orr, N; Park, SK; Thomassen, M; Offit, K; Couch, FJ; Simard, J; Easton, DF; Chenevix-Trench, G; Schmutzler, RK; Antoniou, AC; Ottini, L (2017-07)
      Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge- ...
    • Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial? 

      McBride, KA; Ballinger, ML; Schlub, TE; Young, M-A; Tattersall, MHN; Kirk, J; Eeles, R; Killick, E; Walker, LG; Shanley, S; Thomas, DM; Mitchell, G (2017-07)
      Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers ...
    • RAD51B in Familial Breast Cancer. 

      Pelttari, LM; Khan, S; Vuorela, M; Kiiski, JI; Vilske, S; Nevanlinna, V; Ranta, S; Schleutker, J; Winqvist, R; Kallioniemi, A; Dörk, T; Bogdanova, NV; Figueroa, J; Pharoah, PDP; Schmidt, MK; Dunning, AM; García-Closas, M; Bolla, MK; Dennis, J; Michailidou, K; Wang, Q; Hopper, JL; Southey, MC; Rosenberg, EH; Fasching, PA; Beckmann, MW; Peto, J; Dos-Santos-Silva, I; Sawyer, EJ; Tomlinson, I; Burwinkel, B; Surowy, H; Guénel, P; Truong, T; Bojesen, SE; Nordestgaard, BG; Benitez, J; González-Neira, A; Neuhausen, SL; Anton-Culver, H; Brenner, H; Arndt, V; Meindl, A; Schmutzler, RK; Brauch, H; Brüning, T; Lindblom, A; Margolin, S; Mannermaa, A; Hartikainen, JM; Chenevix-Trench, G; kConFab/AOCS Investigators; Van Dyck, L; Janssen, H; Chang-Claude, J; Rudolph, A; Radice, P; Peterlongo, P; Hallberg, E; Olson, JE; Giles, GG; Milne, RL; Haiman, CA; Schumacher, F; Simard, J; Dumont, M; Kristensen, V; Borresen-Dale, A-L; Zheng, W; Beeghly-Fadiel, A; Grip, M; Andrulis, IL; Glendon, G; Devilee, P; Seynaeve, C; Hooning, MJ; Collée, M; Cox, A; Cross, SS; Shah, M; Luben, RN; Hamann, U; Torres, D; Jakubowska, A; Lubinski, J; Couch, FJ; Yannoukakos, D; Orr, N; Swerdlow, A; Darabi, H; Li, J; Czene, K; Hall, P; Easton, DF; Mattson, J; Blomqvist, C; Aittomäki, K; Nevanlinna, H (2016-01)
      Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...
    • Successful Repatriation of Breast Cancer Surveillance for High-Risk Women to the UK National Health Service Breast Screening Programme. 

      McVeigh, TP; Wiggins, J; Ward, S; Kemp, Z; George, AJ (2018-08)
      BACKGROUND:Since April 2013, the UK's National Health Service Breast Screening Programme (NHSBSP) centers have been obliged to provide services for women at the highest risk of breast cancer, including those carrying highly ...
    • Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 

      Dobbins, SE; Broderick, P; Chubb, D; Kinnersley, B; Sherborne, AL; Houlston, RS (2016-10)
      Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of ...
    • Vps34 PI 3-kinase inactivation enhances insulin sensitivity through reprogramming of mitochondrial metabolism. 

      Bilanges, B; Alliouachene, S; Pearce, W; Morelli, D; Szabadkai, G; Chung, Y-L; Chicanne, G; Valet, C; Hill, JM; Voshol, PJ; Collinson, L; Peddie, C; Ali, K; Ghazaly, E; Rajeeve, V; Trichas, G; Srinivas, S; Chaussade, C; Salamon, RS; Backer, JM; Scudamore, CL; Whitehead, MA; Keaney, EP; Murphy, LO; Semple, RK; Payrastre, B; Tooze, SA; Vanhaesebroeck, B (2017-11-27)
      Vps34 PI3K is thought to be the main producer of phosphatidylinositol-3-monophosphate, a lipid that controls intracellular vesicular trafficking. The organismal impact of systemic inhibition of Vps34 kinase activity is not ...