Recent submissions

  • Checkpoints in TNF-Induced Cell Death: Implications in Inflammation and Cancer. 

    Annibaldi, A; Meier, P (2018-01)
    Tumor necrosis factor (TNF) is a proinflammatory cytokine that coordinates tissue homeostasis by regulating cytokine production, cell survival, and cell death. However, how life and death decisions are made in response to ...
  • Molecular changes in premenopausal oestrogen receptor-positive primary breast cancer in Vietnamese women after oophorectomy. 

    Haynes, BP; Ginsburg, O; Gao, Q; Folkerd, E; Afentakis, M; Quang, LH; Han, PT; Khoa, PH; Dinh, NV; To, TV; Clemons, M; Smith, IE; Dowsett, M (2017)
    For premenopausal women with primary ER + breast cancer, oophorectomy (OvX) is an evidence-based cost-effective option and is standard treatment in many countries. However, there is virtually no data describing the effects ...
  • JAMA Oncology 

    Dowsett, Mitch; Buus, Richard (2015-04-01)
  • CancerGD: A Resource for Identifying and Interpreting Genetic Dependencies in Cancer. 

    Bridgett, S; Campbell, J; Lord, CJ; Ryan, CJ (2017-07-26)
    Genes whose function is selectively essential in the presence of cancer-associated genetic aberrations represent promising targets for the development of precision therapeutics. Here, we present CancerGD, a resource that ...
  • Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. 

    Sud, A; Thomsen, H; Law, PJ; Försti, A; Filho, MIDS; Holroyd, A; Broderick, P; Orlando, G; Lenive, O; Wright, L; Cooke, R; Easton, D; Pharoah, P; Dunning, A; Peto, J; Canzian, F; Eeles, R; Kote-Jarai, Z; Muir, K; Pashayan, N; PRACTICAL consortium; Hoffmann, P; Nöthen, MM; Jöckel, K-H; Strandmann, EPV; Lightfoot, T; Kane, E; Roman, E; Lake, A; Montgomery, D; Jarrett, RF; Swerdlow, AJ; Engert, A; Orr, N; Hemminki, K; Houlston, RS (2017-12-01)
    Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide ...
  • Smoking and risk of breast cancer in the Generations Study cohort. 

    Jones, ME; Schoemaker, MJ; Wright, LB; Ashworth, A; Swerdlow, AJ (2017-11-22)
    BACKGROUND: Plausible biological reasons exist regarding why smoking could affect breast cancer risk, but epidemiological evidence is inconsistent. METHODS: We used serial questionnaire information from the Generations ...
  • Advances in the treatment of advanced oestrogen-receptor-positive breast cancer. 

    Turner, NC; Neven, P; Loibl, S; Andre, F (2017-06-17)
    Oestrogen-receptor-positive breast cancer is the most common subtype of breast cancer. Endocrine therapies that target the dependence of this subtype on the oestrogen receptor have substantial activity, yet the development ...
  • Advances in the treatment of advanced oestrogen-receptor-positive breast cancer. 

    Turner, NC; Neven, P; Loibl, S; Andre, F (2017-06-17)
    Oestrogen-receptor-positive breast cancer is the most common subtype of breast cancer. Endocrine therapies that target the dependence of this subtype on the oestrogen receptor have substantial activity, yet the development ...
  • Palbociclib Combined with Fulvestrant in Premenopausal Women with Advanced Breast Cancer and Prior Progression on Endocrine Therapy: PALOMA-3 Results. 

    Loibl, S; Turner, NC; Ro, J; Cristofanilli, M; Iwata, H; Im, S-A; Masuda, N; Loi, S; André, F; Harbeck, N; Verma, S; Folkerd, E; Puyana Theall, K; Hoffman, J; Zhang, K; Bartlett, CH; Dowsett, M (2017-09)
    BACKGROUND: The efficacy and safety of palbociclib, a cyclin-dependent kinase 4/6 inhibitor, combined with fulvestrant and goserelin was assessed in premenopausal women with advanced breast cancer (ABC) who had progressed ...
  • Treatment and prognosis of leptomeningeal disease secondary to metastatic breast cancer: A single-centre experience. 

    Kingston, B; Kayhanian, H; Brooks, C; Cox, N; Chaabouni, N; Redana, S; Kalaitzaki, E; Smith, I; O'Brien, M; Johnston, S; Parton, M; Noble, J; Stanway, S; Ring, A; Turner, N; Okines, A (2017-12)
    PURPOSE: Leptomeningeal disease (LMD) is an uncommon complication of advanced breast cancer. The prognosis is poor, and although radiotherapy (RT), systemic and intra-thecal (IT) chemotherapy are accepted treatment modalities, ...
  • Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer. 

    Fribbens, C; Garcia Murillas, I; Beaney, M; Hrebien, S; O'Leary, B; Kilburn, L; Howarth, K; Epstein, M; Green, E; Rosenfeld, N; Ring, A; Johnston, S; Turner, N (2017-10-04)
    Background: Selection of resistance mutations may play a major role in the development of endocrine resistance. ESR1 mutations are rare in primary breast cancer but have high prevalence in patients treated with aromatase ...
  • Generation and characterisation of two D2A1 mammary cancer sublines to model spontaneous and experimental metastasis in a syngeneic BALB/c host. 

    Jungwirth, U; van Weverwijk, A; Melake, MJ; Chambers, AF; Gao, Q; Fivaz, M; Isacke, CM (2017-11-30)
    Studying the complex mechanisms underlying breast cancer metastasis and therapy response necessitates relevant in vivo models, particularly syngeneic models with an intact immune system. Two syngeneic spontaneously metastatic ...
  • 20-Year Risks of Breast-Cancer Recurrence after Stopping Endocrine Therapy at 5 Years. 

    Pan, H; Gray, R; Braybrooke, J; Davies, C; Taylor, C; McGale, P; Peto, R; Pritchard, KI; Bergh, J; Dowsett, M; Hayes, DF; EBCTCG
    BACKGROUND: The administration of endocrine therapy for 5 years substantially reduces recurrence rates during and after treatment in women with early-stage, estrogen-receptor (ER)-positive breast cancer. Extending such ...
  • Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer. 

    Weigelt, B; Comino-Méndez, I; de Bruijn, I; Tian, L; Meisel, JL; García-Murillas, I; Fribbens, C; Cutts, R; Martelotto, LG; Ng, CKY; Lim, RS; Selenica, P; Piscuoglio, S; Aghajanian, C; Norton, L; Murali, R; Hyman, DM; Borsu, L; Arcila, ME; Konner, J; Reis-Filho, JS; Greenberg, RA; Robson, ME; Turner, NC (2017-11-01)
    Purpose: Resistance to platinum-based chemotherapy or PARP inhibition in germline BRCA1 or BRCA2 mutation carriers may occur through somatic reversion mutations or intragenic deletions that restore BRCA1 or BRCA2 function. ...
  • The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data. 

    Mahamdallie, S; Ruark, E; Yost, S; Ramsay, E; Uddin, I; Wylie, H; Elliott, A; Strydom, A; Renwick, A; Seal, S; Rahman, N (2017)
    Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) ...
  • Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study 

    Brouckaert, O; Rudolph, A; Laenen, A; Keeman, R; Bolla, MK; Wang, Q; Soubry, A; Wildiers, H; Andrulis, IL; Arndt, V; Beckmann, MW; Benitez, J; Blomqvist, C; Bojesen, SE; Brauch, H; Brennan, P; Brenner, H; Chenevix-Trench, G; Choi, J-Y; Cornelissen, S; Couch, FJ; Cox, A; Cross, SS; Czene, K; Eriksson, M; Fasching, PA; Figueroa, J; Flyger, H; Giles, GG; González-Neira, A; Guénel, P; Hall, P; Hollestelle, A; Hopper, JL; Ito, H; Jones, M; Kang, D; Knight, JA; Kosma, V-M; Li, J; Lindblom, A; Lilyquist, J; Lophatananon, A; Mannermaa, A; Manoukian, S; Margolin, S; Matsuo, K; Muir, K; Nevanlinna, H; Peterlongo, P; Pylkäs, K; Saajrang, S; Seynaeve, C; Shen, C-Y; Shu, X-O; Southey, MC; Swerdlow, A; Teo, S-H; Tollenaar, RAEM; Truong, T; Tseng, C-C; van den Broek, AJ; van Deurzen, CHM; Winqvist, R; Wu, AH; Yip, CH; Yu, J-C; Zheng, W; Milne, RL; Pharoah, PDP; Easton, DF; Schmidt, MK; Garcia-Closas, M; Chang-Claude, J; Lambrechts, D; Neven, P (2017-12)
  • 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, PD; 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; 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, AL; 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 ...
  • 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 ...
  • Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 

    Tatton-Brown, K; Loveday, C; Yost, S; Clarke, M; Ramsay, E; Zachariou, A; Elliott, A; Wylie, H; Ardissone, A; Rittinger, O; Stewart, F; Temple, IK; Cole, T; Childhood Overgrowth Collaboration; Mahamdallie, S; Seal, S; Ruark, E; Rahman, N (2017-05-04)
    To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ...

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