Now showing items 1-3 of 3

    • 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, ...
    • 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 ...
    • Multifaceted dysregulation of the epidermal growth factor receptor pathway in clear cell sarcoma of the kidney. 

      Little, SE; Bax, DA; Rodriguez-Pinilla, M; Natrajan, R; Messahel, B; Pritchard-Jones, K; Vujanic, GM; Reis-Filho, JS; Jones, C (2007-08)
      PURPOSE:Epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase overexpressed in a variety of human malignancies, against which targeted therapies have shown efficacy in lung and brain tumors. Clinical responses ...