Now showing items 1-7 of 7

    • A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer. 

      Eccleston, A; Bentley, A; Dyer, M; Strydom, A; Vereecken, W; George, A; Rahman, N (2017-04)
      Objectives To evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed "BRCA") testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first- and second-degree ...
    • Familial gigantism caused by an NSD1 mutation. 

      van Haelst, MM; Hoogeboom, JJM; Baujat, G; Brüggenwirth, HT; Van de Laar, I; Coleman, K; Rahman, N; Niermeijer, MF; Drop, SLS; Scambler, PJ (2005-11)
      A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. ...
    • Family history and risk of breast cancer: an analysis accounting for family structure. 

      Brewer, HR; Jones, ME; Schoemaker, MJ; Ashworth, A; Swerdlow, AJ (2017-08)
      Purpose Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take ...
    • Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian Carcinoma. 

      Rivera, B; Di Iorio, M; Frankum, J; Nadaf, J; Fahiminiya, S; Arcand, SL; Burk, DL; Grapton, D; Tomiak, E; Hastings, V; Hamel, N; Wagener, R; Aleynikova, O; Giroux, S; Hamdan, FF; Dionne-Laporte, A; Zogopoulos, G; Rousseau, F; Berghuis, AM; Provencher, D; Rouleau, GA; Michaud, JL; Mes-Masson, A-M; Majewski, J; Bens, S; Siebert, R; Narod, SA; Akbari, MR; Lord, CJ; Tonin, PN; Orthwein, A; Foulkes, WD (2017-08)
      RAD51D is a key player in DNA repair by homologous recombination (HR), and <i>RAD51D</i> truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating <i>RAD51D</i> ...
    • 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 ...
    • Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology. 

      Loveday, C; Law, P; Litchfield, K; Levy, M; Holroyd, A; Broderick, P; Kote-Jarai, Z; Dunning, AM; Muir, K; Peto, J; Eeles, R; Easton, DF; Dudakia, D; Orr, N; Pashayan, N; UK Testicular Cancer Collaboration, The PRACTICAL Consortium; Reid, A; Huddart, RA; Houlston, RS; Turnbull, C (2018-09)
      Testicular germ cell tumour (TGCT) is the most common cancer in young men. Multiplex TGCT families have been well reported and analyses of population cancer registries have demonstrated a four- to eightfold risk to male ...
    • PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. 

      McConville, C; Reid, S; Baskcomb, L; Douglas, J; Rahman, N (2006-06)
      Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk ...