Now showing items 1-14 of 14

    • 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 ...
    • 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, JI; 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, VM; Mannermaa, A; Tseng, CC; 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, AL; 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, AM; Humphreys, K; Gao, YT; Shu, XO; Cox, A; Cross, SS; Blot, W; Cai, Q; Ghoussaini, M; Perkins, BJ; Shah, M; Choi, JY; Kang, D; Lee, SC; Hartman, M; Kabisch, M; Torres, D; Jakubowska, A; Lubinski, J; Brennan, P; Sangrajrang, S; Ambrosone, CB; Toland, AE; Shen, CY; Wu, PE; 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, TV; 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; Izatt, L; Ellis, S; Godwin, AK; Arnold, N; Niederacher, D; Rhiem, K; Bogdanova-Markov, N; Sagne, C; Stoppa-Lyonnet, D; Damiola, F; Sinilnikova, OM; Mazoyer, S; Isaacs, C; Claes, KB; De Leeneer, K; de la Hoya, M; Caldes, T; Nevanlinna, H; Khan, S; Mensenkamp, AR; 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; 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, KA; Piedmonte, M; Mulligan, AM; Glendon, G; Bojesen, A; Thomassen, M; Caligo, MA; Yoon, SY; 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, KT; Helland, Å; Haakensen, V; Dowsett, M; Pharoah, PD; 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 ...
    • canSAR: an integrated cancer public translational research and drug discovery resource. 

      Halling-Brown, MD; Bulusu, KC; Patel, M; Tym, JE; Al-Lazikani, B (2012-01)
      canSAR is a fully integrated cancer research and drug discovery resource developed to utilize the growing publicly available biological annotation, chemical screening, RNA interference screening, expression, amplification ...
    • CD248+ stromal cells are associated with progressive chronic kidney disease. 

      Smith, SW; Eardley, KS; Croft, AP; Nwosu, J; Howie, AJ; Cockwell, P; Isacke, CM; Buckley, CD; Savage, CO (2011-07)
      Stromal fibroblasts are the primary cells of the kidney that produce fibrotic matrix. CD248 is a stromal marker expressed on fibroblasts and pericytes within the human kidney. Here, we tested whether CD248 expression in ...
    • Chemical approaches to targeted protein degradation through modulation of the ubiquitin-proteasome pathway. 

      Collins, I; Wang, H; Caldwell, JJ; Chopra, R
      Manipulation of the ubiquitin-proteasome system to achieve targeted degradation of proteins within cells using chemical tools and drugs has the potential to transform pharmacological and therapeutic approaches in cancer ...
    • Chemical approaches to targeted protein degradation through modulation of the ubiquitin-proteasome pathway. 

      Collins, I; Wang, H; Caldwell, JJ; Chopra, R (2017-03-15)
      Manipulation of the ubiquitin-proteasome system to achieve targeted degradation of proteins within cells using chemical tools and drugs has the potential to transform pharmacological and therapeutic approaches in cancer ...
    • Classifying the evolutionary and ecological features of neoplasms. 

      Maley, CC; Aktipis, A; Graham, TA; Sottoriva, A; Boddy, AM; Janiszewska, M; Silva, AS; Gerlinger, M; Yuan, Y; Pienta, KJ; Anderson, KS; Gatenby, R; Swanton, C; Posada, D; Wu, C-I; Schiffman, JD; Hwang, ES; Polyak, K; Anderson, ARA; Brown, JS; Greaves, M; Shibata, D (2017-10)
      Neoplasms change over time through a process of cell-level evolution, driven by genetic and epigenetic alterations. However, the ecology of the microenvironment of a neoplastic cell determines which changes provide adaptive ...
    • Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. 

      Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; Brooks, T; Kristiansen, M; Chalker, J; Wilkhu, L; Mifsud, W; Apps, J; Thom, M; Hubank, M; Forshew, T; Cross, JH; Hargrave, D; Ham, J; Jacques, TS (2018-01)
      Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic ...
    • Delayed APC/C activation extends the first mitosis of mouse embryos. 

      Ajduk, A; Strauss, B; Pines, J; Zernicka-Goetz, M (2017-08-29)
      The correct temporal regulation of mitosis underpins genomic stability because it ensures the alignment of chromosomes on the mitotic spindle that is required for their proper segregation to the two daughter cells. Crucially, ...
    • Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. 

      Ruth, KS; Soares, ALG; Borges, M-C; Eliassen, AH; Hankinson, SE; Jones, ME; Kraft, P; Nichols, HB; Sandler, DP; Schoemaker, MJ; Taylor, JA; Zeleniuch-Jacquotte, A; Lawlor, DA; Swerdlow, AJ; Murray, A (2019-04-15)
      Anti-Müllerian hormone (AMH) is required for sexual differentiation in the fetus, and in adult females AMH is produced by growing ovarian follicles. Consequently, AMH levels are correlated with ovarian reserve, declining ...
    • The Mitotic Checkpoint Complex Requires an Evolutionary Conserved Cassette to Bind and Inhibit Active APC/C. 

      Di Fiore, B; Wurzenberger, C; Davey, NE; Pines, J (2016-12-15)
      The Spindle Assembly Checkpoint (SAC) ensures genomic stability by preventing sister chromatid separation until all chromosomes are attached to the spindle. It catalyzes the production of the Mitotic Checkpoint Complex ...
    • Overexpression of EZH2 in multiple myeloma is associated with poor prognosis and dysregulation of cell cycle control. 

      Pawlyn, C; Bright, MD; Buros, AF; Stein, CK; Walters, Z; Aronson, LI; Mirabella, F; Jones, JR; Kaiser, MF; Walker, BA; Jackson, GH; Clarke, PA; Bergsagel, PL; Workman, P; Chesi, M; Morgan, GJ; Davies, FE (2017-03-31)
      Myeloma is heterogeneous at the molecular level with subgroups of patients characterised by features of epigenetic dysregulation. Outcomes for myeloma patients have improved over the past few decades except for molecularly ...
    • Splicing imbalances in basal-like breast cancer underpin perturbation of cell surface and oncogenic pathways and are associated with patients' survival. 

      Gracio, F; Burford, B; Gazinska, P; Mera, A; Mohd Noor, A; Marra, P; Gillett, C; Grigoriadis, A; Pinder, S; Tutt, A; de Rinaldis, E (2017-01-06)
      Despite advancements in the use of transcriptional information to understand and classify breast cancers, the contribution of splicing to the establishment and progression of these tumours has only recently starting to ...
    • A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 

      Wu, L; Shi, W; Long, J; Guo, X; Michailidou, K; Beesley, J; Bolla, MK; Shu, X-O; Lu, Y; Cai, Q; Al-Ejeh, F; Rozali, E; Wang, Q; Dennis, J; Li, B; Zeng, C; Feng, H; Gusev, A; Barfield, RT; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Auer, PL; Barrdahl, M; Baynes, C; Beckmann, MW; Benitez, J; Bermisheva, M; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Brauch, H; Brenner, H; Brinton, L; Broberg, P; Brucker, SY; Burwinkel, B; Caldés, T; Canzian, F; Carter, BD; Castelao, JE; Chang-Claude, J; Chen, X; Cheng, T-YD; Christiansen, H; Clarke, CL; NBCS Collaborators; Collée, M; Cornelissen, S; Couch, FJ; Cox, D; Cox, A; Cross, SS; Cunningham, JM; Czene, K; Daly, MB; Devilee, P; Doheny, KF; Dörk, T; Dos-Santos-Silva, I; Dumont, M; Dwek, M; Eccles, DM; Eilber, U; Eliassen, AH; Engel, C; Eriksson, M; Fachal, L; Fasching, PA; Figueroa, J; Flesch-Janys, D; Fletcher, O; Flyger, H; Fritschi, L; Gabrielson, M; Gago-Dominguez, M; Gapstur, SM; García-Closas, M; Gaudet, MM; Ghoussaini, M; Giles, GG; Goldberg, MS; Goldgar, DE; González-Neira, A; Guénel, P; Hahnen, E; Haiman, CA; Håkansson, N; Hall, P; Hallberg, E; Hamann, U; Harrington, P; Hein, A; Hicks, B; Hillemanns, P; Hollestelle, A; Hoover, RN; Hopper, JL; Huang, G; Humphreys, K; Hunter, DJ; Jakubowska, A; Janni, W; John, EM; Johnson, N; Jones, K; Jones, ME; Jung, A; Kaaks, R; Kerin, MJ; Khusnutdinova, E; Kosma, V-M; Kristensen, VN; Lambrechts, D; Le Marchand, L; Li, J; Lindström, S; Lissowska, J; Lo, W-Y; Loibl, S; Lubinski, J; Luccarini, C; Lux, MP; MacInnis, RJ; Maishman, T; Kostovska, IM; Mannermaa, A; Manson, JE; Margolin, S; Mavroudis, D; Meijers-Heijboer, H; Meindl, A; Menon, U; Meyer, J; Mulligan, AM; Neuhausen, SL; Nevanlinna, H; Neven, P; Nielsen, SF; Nordestgaard, BG; Olopade, OI; Olson, JE; Olsson, H; Peterlongo, P; Peto, J; Plaseska-Karanfilska, D; Prentice, R; Presneau, N; Pylkäs, K; Rack, B; Radice, P; Rahman, N; Rennert, G; Rennert, HS; Rhenius, V; Romero, A; Romm, J; Rudolph, A; Saloustros, E; Sandler, DP; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Schneeweiss, A; Scott, RJ; Scott, CG; Seal, S; Shah, M; Shrubsole, MJ; Smeets, A; Southey, MC; Spinelli, JJ; Stone, J; Surowy, H; Swerdlow, AJ; Tamimi, RM; Tapper, W; Taylor, JA; Terry, MB; Tessier, DC; Thomas, A; Thöne, K; Tollenaar, RAEM; Torres, D; Truong, T; Untch, M; Vachon, C; Van Den Berg, D; Vincent, D; Waisfisz, Q; Weinberg, CR; Wendt, C; Whittemore, AS; Wildiers, H; Willett, WC; Winqvist, R; Wolk, A; Xia, L; Yang, XR; Ziogas, A; Ziv, E; kConFab/AOCS Investigators; Dunning, AM; Pharoah, PDP; Simard, J; Milne, RL; Edwards, SL; Kraft, P; Easton, DF; Chenevix-Trench, G; Zheng, W (2018-07)
      The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify ...