Now showing items 1-6 of 6

    • An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. 

      Wyszynski, A; Hong, C-C; Lam, K; Michailidou, K; Lytle, C; Yao, S; Zhang, Y; Bolla, MK; Wang, Q; Dennis, J; Hopper, JL; Southey, MC; Schmidt, MK; Broeks, A; Muir, K; Lophatananon, A; Fasching, PA; Beckmann, MW; Peto, J; Dos-Santos-Silva, I; Sawyer, EJ; Tomlinson, I; Burwinkel, B; Marme, F; Guénel, P; Truong, T; Bojesen, SE; Nordestgaard, BG; González-Neira, A; Benitez, J; Neuhausen, SL; Brenner, H; Dieffenbach, AK; Meindl, A; Schmutzler, RK; Brauch, H; GENICA Network; Nevanlinna, H; Khan, S; Matsuo, K; Ito, H; Dörk, T; Bogdanova, NV; Lindblom, A; Margolin, S; Mannermaa, A; Kosma, V-M; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu, AH; Van Den Berg, D; Lambrechts, D; Wildiers, H; Chang-Claude, J; Rudolph, A; Radice, P; Peterlongo, P; Couch, FJ; Olson, JE; Giles, GG; Milne, RL; Haiman, CA; Henderson, BE; Dumont, M; Teo, SH; Wong, TY; Kristensen, V; Zheng, W; Long, J; Winqvist, R; Pylkäs, K; Andrulis, IL; Knight, JA; Devilee, P; Seynaeve, C; García-Closas, M; Figueroa, J; Klevebring, D; Czene, K; Hooning, MJ; van den Ouweland, AMW; Darabi, H; Shu, X-O; Gao, Y-T; Cox, A; Blot, W; Signorello, LB; Shah, M; Kang, D; Choi, J-Y; Hartman, M; Miao, H; Hamann, U; Jakubowska, A; Lubinski, J; Sangrajrang, S; McKay, J; Toland, AE; Yannoukakos, D; Shen, C-Y; Wu, P-E; Swerdlow, A; Orr, N; Simard, J; Pharoah, PDP; Dunning, AM; Chenevix-Trench, G; Hall, P; Bandera, E; Amos, C; Ambrosone, C; Easton, DF; Cole, MD (2016-09)
      Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...
    • Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. 

      Hamdi, Y; Soucy, P; Adoue, V; Michailidou, K; Canisius, S; Lemaçon, A; Droit, A; Andrulis, IL; Anton-Culver, H; Arndt, V; Baynes, C; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Bolla, MK; Bonanni, B; Borresen-Dale, A-L; Brand, JS; Brauch, H; Brenner, H; Broeks, A; Burwinkel, B; Chang-Claude, J; NBCS Collaborators; Couch, FJ; Cox, A; Cross, SS; Czene, K; Darabi, H; Dennis, J; Devilee, P; Dörk, T; Dos-Santos-Silva, I; Eriksson, M; Fasching, PA; Figueroa, J; Flyger, H; García-Closas, M; Giles, GG; Goldberg, MS; González-Neira, A; Grenaker-Alnæs, G; Guénel, P; Haeberle, L; Haiman, CA; Hamann, U; Hallberg, E; Hooning, MJ; Hopper, JL; Jakubowska, A; Jones, M; Kabisch, M; Kataja, V; Lambrechts, D; Le Marchand, L; Lindblom, A; Lubinski, J; Mannermaa, A; Maranian, M; Margolin, S; Marme, F; Milne, RL; Neuhausen, SL; Nevanlinna, H; Neven, P; Olswold, C; Peto, J; Plaseska-Karanfilska, D; Pylkäs, K; Radice, P; Rudolph, A; Sawyer, EJ; Schmidt, MK; Shu, X-O; Southey, MC; Swerdlow, A; Tollenaar, RAEM; Tomlinson, I; Torres, D; Truong, T; Vachon, C; Van Den Ouweland, AMW; Wang, Q; Winqvist, R; kConFab/AOCS Investigators; Zheng, W; Benitez, J; Chenevix-Trench, G; Dunning, AM; Pharoah, PDP; Kristensen, V; Hall, P; Easton, DF; Pastinen, T; Nord, S; Simard, J (2016-12)
      There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory ...
    • Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 

      Yost, S; de Wolf, B; Hanks, S; Zachariou, A; Marcozzi, C; Clarke, M; de Voer, R; Etemad, B; Uijttewaal, E; Ramsay, E; Wylie, H; Elliott, A; Picton, S; Smith, A; Smithson, S; Seal, S; Ruark, E; Houge, G; Pines, J; Kops, GJPL; Rahman, N (2017-07)
      Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ...
    • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. 

      Dunning, AM; Michailidou, K; Kuchenbaecker, KB; Thompson, D; French, JD; Beesley, J; Healey, CS; Kar, S; Pooley, KA; Lopez-Knowles, E; Dicks, E; Barrowdale, D; Sinnott-Armstrong, NA; Sallari, RC; Hillman, KM; Kaufmann, S; Sivakumaran, H; Moradi Marjaneh, M; Lee, JS; Hills, M; Jarosz, M; Drury, S; Canisius, S; Bolla, MK; Dennis, J; Wang, Q; Hopper, JL; Southey, MC; Broeks, A; Schmidt, MK; Lophatananon, A; Muir, K; Beckmann, MW; Fasching, PA; Dos-Santos-Silva, I; Peto, J; Sawyer, EJ; Tomlinson, I; Burwinkel, B; Marme, F; Guénel, P; Truong, T; Bojesen, SE; Flyger, H; González-Neira, A; Perez, JIA; Anton-Culver, H; Eunjung, L; Arndt, V; Brenner, H; Meindl, A; Schmutzler, RK; Brauch, H; Hamann, U; Aittomäki, K; Blomqvist, C; Ito, H; Matsuo, K; Bogdanova, N; Dörk, T; Lindblom, A; Margolin, S; Kosma, V-M; Mannermaa, A; Tseng, C-C; Wu, AH; Lambrechts, D; Wildiers, H; Chang-Claude, J; Rudolph, A; Peterlongo, P; Radice, P; Olson, JE; Giles, GG; Milne, RL; Haiman, CA; Henderson, BE; Goldberg, MS; Teo, SH; Yip, CH; Nord, S; Borresen-Dale, A-L; Kristensen, V; Long, J; Zheng, W; Pylkäs, K; Winqvist, R; Andrulis, IL; Knight, JA; Devilee, P; Seynaeve, C; Figueroa, J; Sherman, ME; Czene, K; Darabi, H; Hollestelle, A; van den Ouweland, AMW; Humphreys, K; Gao, Y-T; Shu, X-O; Cox, A; Cross, SS; Blot, W; Cai, Q; Ghoussaini, M; Perkins, BJ; Shah, M; Choi, J-Y; Kang, D; Lee, SC; Hartman, M; Kabisch, M; Torres, D; Jakubowska, A; Lubinski, J; Brennan, P; Sangrajrang, S; Ambrosone, CB; Toland, AE; Shen, C-Y; Wu, P-E; Orr, N; Swerdlow, A; McGuffog, L; Healey, S; Lee, A; Kapuscinski, M; John, EM; Terry, MB; Daly, MB; Goldgar, DE; Buys, SS; Janavicius, R; Tihomirova, L; Tung, N; Dorfling, CM; van Rensburg, EJ; Neuhausen, SL; Ejlertsen, B; Hansen, TVO; Osorio, A; Benitez, J; Rando, R; Weitzel, JN; Bonanni, B; Peissel, B; Manoukian, S; Papi, L; Ottini, L; Konstantopoulou, I; Apostolou, P; Garber, J; Rashid, MU; Frost, D; EMBRACE; Izatt, L; Ellis, S; Godwin, AK; Arnold, N; Niederacher, D; Rhiem, K; Bogdanova-Markov, N; Sagne, C; Stoppa-Lyonnet, D; Damiola, F; GEMO Study Collaborators; Sinilnikova, OM; Mazoyer, S; Isaacs, C; Claes, KBM; De Leeneer, K; de la Hoya, M; Caldes, T; Nevanlinna, H; Khan, S; Mensenkamp, AR; HEBON; Hooning, MJ; Rookus, MA; Kwong, A; Olah, E; Diez, O; Brunet, J; Pujana, MA; Gronwald, J; Huzarski, T; Barkardottir, RB; Laframboise, R; Soucy, P; Montagna, M; Agata, S; Teixeira, MR; kConFab Investigators; Park, SK; Lindor, N; Couch, FJ; Tischkowitz, M; Foretova, L; Vijai, J; Offit, K; Singer, CF; Rappaport, C; Phelan, CM; Greene, MH; Mai, PL; Rennert, G; Imyanitov, EN; Hulick, PJ; Phillips, K-A; Piedmonte, M; Mulligan, AM; Glendon, G; Bojesen, A; Thomassen, M; Caligo, MA; Yoon, S-Y; Friedman, E; Laitman, Y; Borg, A; von Wachenfeldt, A; Ehrencrona, H; Rantala, J; Olopade, OI; Ganz, PA; Nussbaum, RL; Gayther, SA; Nathanson, KL; Domchek, SM; Arun, BK; Mitchell, G; Karlan, BY; Lester, J; Maskarinec, G; Woolcott, C; Scott, C; Stone, J; Apicella, C; Tamimi, R; Luben, R; Khaw, K-T; Helland, Å; Haakensen, V; Dowsett, M; Pharoah, PDP; Simard, J; Hall, P; García-Closas, M; Vachon, C; Chenevix-Trench, G; Antoniou, AC; Easton, DF; Edwards, SL (2016-04)
      We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ...
    • Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. 

      Zhang, T; Choi, J; Kovacs, MA; Shi, J; Xu, M; NISC Comparative Sequencing Program; Melanoma Meta-Analysis Consortium; Goldstein, AM; Trower, AJ; Bishop, DT; Iles, MM; Duffy, DL; MacGregor, S; Amundadottir, LT; Law, MH; Loftus, SK; Pavan, WJ; Brown, KM (2018-11)
      Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better understand the cell-type-specific regulatory landscape of human ...
    • The regulatory isoform rPGRP-LC induces immune resolution via endosomal degradation of receptors. 

      Neyen, C; Runchel, C; Schüpfer, F; Meier, P; Lemaitre, B (2016-10)
      The innate immune system needs to distinguish between harmful and innocuous stimuli to adapt its activation to the level of threat. How Drosophila mounts differential immune responses to dead and live Gram-negative bacteria ...