Now showing items 1-3 of 3

    • Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma. 

      Rivera, B; Di Iorio, M; Frankum, J; Nadaf, J; Fahiminiya, S; Arcand, SL; Burk, DL; Grapton, D; Tomiak, E; Hastings, V; Hamel, N; Wagener, R; Aleynikova, O; Giroux, S; Hamdan, FF; Dionne-Laporte, A; Zogopoulos, G; Rousseau, F; Berghuis, AM; Provencher, D; Rouleau, GA; Michaud, JL; Mes-Masson, A-M; Majewski, J; Bens, S; Siebert, R; Narod, SA; Akbari, MR; Lord, CJ; Tonin, PN; Orthwein, A; Foulkes, WD (2017-08)
      RAD51D is a key player in DNA repair by homologous recombination (HR), and <i>RAD51D</i> truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating <i>RAD51D</i> ...
    • <i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 

      Shimelis, H; Mesman, RLS; Von Nicolai, C; Ehlen, A; Guidugli, L; Martin, C; Calléja, FMGR; Meeks, H; Hallberg, E; Hinton, J; Lilyquist, J; Hu, C; Aalfs, CM; Aittomäki, K; Andrulis, I; Anton-Culver, H; Arndt, V; Beckmann, MW; Benitez, J; Bogdanova, NV; Bojesen, SE; Bolla, MK; Borresen-Dale, A-L; Brauch, H; Brennan, P; Brenner, H; Broeks, A; Brouwers, B; Brüning, T; Burwinkel, B; Chang-Claude, J; Chenevix-Trench, G; Cheng, C-Y; Choi, J-Y; Collée, JM; Cox, A; Cross, SS; Czene, K; Darabi, H; Dennis, J; Dörk, T; Dos-Santos-Silva, I; Dunning, AM; Fasching, PA; Figueroa, J; Flyger, H; García-Closas, M; Giles, GG; Glendon, G; Guénel, P; Haiman, CA; Hall, P; Hamann, U; Hartman, M; Hogervorst, FB; Hollestelle, A; Hopper, JL; Ito, H; Jakubowska, A; Kang, D; Kosma, V-M; Kristensen, V; Lai, K-N; Lambrechts, D; Marchand, LL; Li, J; Lindblom, A; Lophatananon, A; Lubinski, J; Machackova, E; Mannermaa, A; Margolin, S; Marme, F; Matsuo, K; Miao, H; Michailidou, K; Milne, RL; Muir, K; Neuhausen, SL; Nevanlinna, H; Olson, JE; Olswold, C; Oosterwijk, JJC; Osorio, A; Peterlongo, P; Peto, J; Pharoah, PDP; Pylkäs, K; Radice, P; Rashid, MU; Rhenius, V; Rudolph, A; Sangrajrang, S; Sawyer, EJ; Schmidt, MK; Schoemaker, MJ; Seynaeve, C; Shah, M; Shen, C-Y; Shrubsole, M; Shu, X-O; Slager, S; Southey, MC; Stram, DO; Swerdlow, A; Teo, SH; Tomlinson, I; Torres, D; Truong, T; van Asperen, CJ; van der Kolk, LE; Wang, Q; Winqvist, R; Wu, AH; Yu, J-C; Zheng, W; Zheng, Y; Leary, J; Walker, L; Foretova, L; Fostira, F; Claes, KBM; Varesco, L; Moghadasi, S; Easton, DF; Spurdle, A; Devilee, P; Vrieling, H; Monteiro, ANA; Goldgar, DE; Carreira, A; Vreeswijk, MPG; Couch, FJ; for kConFab/AOCS Investigators; for NBCS Collaborators (2017-06)
      Breast cancer risks conferred by many germline missense variants in the <i>BRCA1</i> and <i>BRCA2</i> genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations ...
    • 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 ...