Now showing items 1-4 of 4

    • Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. 

      Tutt, A; Tovey, H; Cheang, MCU; Kernaghan, S; Kilburn, L; Gazinska, P; Owen, J; Abraham, J; Barrett, S; Barrett-Lee, P; Brown, R; Chan, S; Dowsett, M; Flanagan, JM; Fox, L; Grigoriadis, A; Gutin, A; Harper-Wynne, C; Hatton, MQ; Hoadley, KA; Parikh, J; Parker, P; Perou, CM; Roylance, R; Shah, V; Shaw, A; Smith, IE; Timms, KM; Wardley, AM; Wilson, G; Gillett, C; Lanchbury, JS; Ashworth, A; Rahman, N; Harries, M; Ellis, P; Pinder, SE; Bliss, JM (2018-05)
      Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) and causing genomic instability. HR also repairs ...
    • CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. 

      Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; Mahamdallie, S; Cloke, V; Seal, S; Strydom, A; Lunter, G; Rahman, N (2015-07-28)
      Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision ...
    • Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour. 

      Hanks, S; Perdeaux, ER; Seal, S; Ruark, E; Mahamdallie, SS; Murray, A; Ramsay, E; Del Vecchio Duarte, S; Zachariou, A; de Souza, B; Warren-Perry, M; Elliott, A; Davidson, A; Price, H; Stiller, C; Pritchard-Jones, K; Rahman, N (2014-08-07)
      Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ...
    • The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants. 

      Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018-01)
      Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...