Now showing items 1-8 of 8

    • A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations. 

      George, SL; Izquierdo, E; Campbell, J; Koutroumanidou, E; Proszek, P; Jamal, S; Hughes, D; Yuan, L; Marshall, LV; Carceller, F; Chisholm, JC; Vaidya, S; Mandeville, H; Angelini, P; Wasti, A; Bexelius, T; Thway, K; Gatz, SA; Clarke, M; Al-Lazikani, B; Barone, G; Anderson, J; Tweddle, DA; Gonzalez, D; Walker, BA; Barton, J; Depani, S; Eze, J; Ahmed, SW; Moreno, L; Pearson, A; Shipley, J; Jones, C; Hargrave, D; Jacques, TS; Hubank, M; Chesler, L (2019-11)
      BACKGROUND:For children with cancer, the clinical integration of precision medicine to enable predictive biomarker-based therapeutic stratification is urgently needed. METHODS:We have developed a hybrid-capture next-generation ...
    • Application of Sequencing, Liquid Biopsies, and Patient-Derived Xenografts for Personalized Medicine in Melanoma. 

      Girotti, MR; Gremel, G; Lee, R; Galvani, E; Rothwell, D; Viros, A; Mandal, AK; Lim, KHJ; Saturno, G; Furney, SJ; Baenke, F; Pedersen, M; Rogan, J; Swan, J; Smith, M; Fusi, A; Oudit, D; Dhomen, N; Brady, G; Lorigan, P; Dive, C; Marais, R (2016-03)
      Unlabelled Targeted therapies and immunotherapies have transformed melanoma care, extending median survival from ∼9 to over 25 months, but nevertheless most patients still die of their disease. The aim of precision medicine ...
    • Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. 

      Camacho, N; Van Loo, P; Edwards, S; Kay, JD; Matthews, L; Haase, K; Clark, J; Dennis, N; Thomas, S; Kremeyer, B; Zamora, J; Butler, AP; Gundem, G; Merson, S; Luxton, H; Hawkins, S; Ghori, M; Marsden, L; Lambert, A; Karaszi, K; Pelvender, G; Massie, CE; Kote-Jarai, Z; Raine, K; Jones, D; Howat, WJ; Hazell, S; Livni, N; Fisher, C; Ogden, C; Kumar, P; Thompson, A; Nicol, D; Mayer, E; Dudderidge, T; Yu, Y; Zhang, H; Shah, NC; Gnanapragasam, VJ; CRUK-ICGC Prostate Group; Isaacs, W; Visakorpi, T; Hamdy, F; Berney, D; Verrill, C; Warren, AY; Wedge, DC; Lynch, AG; Foster, CS; Lu, YJ; Bova, GS; Whitaker, HC; McDermott, U; Neal, DE; Eeles, R; Eeles, R; Cooper, CS; Brewer, DS (2017-09-25)
      A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively ...
    • FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment. 

      Wilkins, A; Chauhan, R; Rust, A; Pearson, A; Daley, F; Manodoro, F; Fenwick, K; Bliss, J; Yarnold, J; Somaiah, N (2018-08)
      Background Bio-banked formalin-fixed paraffin-embedded (FFPE) tissues provide an excellent opportunity for translational genomic research. Historically matched blood has not always been collected as a source of germline ...
    • Pan-cancer analysis of whole genomes. 

      ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium (2020-02-05)
      Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1-3 . Here we report the integrative analysis of ...
    • Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies. 

      Larson, NB; McDonnell, S; Albright, LC; Teerlink, C; Stanford, J; Ostrander, EA; Isaacs, WB; Xu, J; Cooney, KA; Lange, E; Schleutker, J; Carpten, JD; Powell, I; Bailey-Wilson, J; Cussenot, O; Cancel-Tassin, G; Giles, G; MacInnis, R; Maier, C; Whittemore, AS; Hsieh, C-L; Wiklund, F; Catalona, WJ; Foulkes, W; Mandal, D; Eeles, R; Kote-Jarai, Z; Ackerman, MJ; Olson, TM; Klein, CJ; Thibodeau, SN; Schaid, DJ (2016-09)
      Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis ...
    • Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 

      Wedge, DC; Gundem, G; Mitchell, T; Woodcock, DJ; Martincorena, I; Ghori, M; Zamora, J; Butler, A; Whitaker, H; Kote-Jarai, Z; Alexandrov, LB; Van Loo, P; Massie, CE; Dentro, S; Warren, AY; Verrill, C; Berney, DM; Dennis, N; Merson, S; Hawkins, S; Howat, W; Lu, Y-J; Lambert, A; Kay, J; Kremeyer, B; Karaszi, K; Luxton, H; Camacho, N; Marsden, L; Edwards, S; Matthews, L; Bo, V; Leongamornlert, D; McLaren, S; Ng, A; Yu, Y; Zhang, H; Dadaev, T; Thomas, S; Easton, DF; Ahmed, M; Bancroft, E; Fisher, C; Livni, N; Nicol, D; Tavaré, S; Gill, P; Greenman, C; Khoo, V; Van As, N; Kumar, P; Ogden, C; Cahill, D; Thompson, A; Mayer, E; Rowe, E; Dudderidge, T; Gnanapragasam, V; Shah, NC; Raine, K; Jones, D; Menzies, A; Stebbings, L; Teague, J; Hazell, S; Corbishley, C; CAMCAP Study Group; de Bono, J; Attard, G; Isaacs, W; Visakorpi, T; Fraser, M; Boutros, PC; Bristow, RG; Workman, P; Sander, C; TCGA Consortium; Hamdy, FC; Futreal, A; McDermott, U; Al-Lazikani, B; Lynch, AG; Bova, GS; Foster, CS; Brewer, DS; Neal, DE; Cooper, CS; Eeles, RA (2018-05)
      Prostate cancer represents a substantial clinical challenge because it is difficult to predict outcome and advanced disease is often fatal. We sequenced the whole genomes of 112 primary and metastatic prostate cancer ...
    • Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification. 

      Ward, DG; Gordon, NS; Boucher, RH; Pirrie, SJ; Baxter, L; Ott, S; Silcock, L; Whalley, CM; Stockton, JD; Beggs, AD; Griffiths, M; Abbotts, B; Ijakipour, H; Latheef, FN; Robinson, RA; White, AJ; James, ND; Zeegers, MP; Cheng, KK; Bryan, RT (2019-09)
      Objectives To develop a focused panel of somatic mutations (SMs) present in the majority of urothelial bladder cancers (UBCs), to investigate the diagnostic and prognostic utility of this panel, and to compare the ...