Now showing items 1-20 of 255

    • A paradox: urgent BRCA genetic testing. 

      Mitchell, G; Ardern-Jones, A; Kissin Mchir, M; Taylor, R; Eeles, RA (2001-01)
      Diagnostic or predictive testing for germline mutations in cancer predisposition genes is inherently slow as result of both genetic counselling and mutation analysis. The overall time taken for mutation testing is not ...
    • Cancer and genomics 

      Stratton, M (2001-02)
      Cancer and genomics. Identification of the genes that cause oncogenesis is a central aim of cancer research. We searched the proteins predicted from the draft human genome sequence for paralogues of known tumour suppressor ...
    • Mortality and cancer incidence in persons with Down's syndrome, their parents and siblings. 

      Hermon, C; Alberman, E; Beral, V; Swerdlow, AJ (2001-03)
      A cohort study of 1425 persons with Down's syndrome (DS), and of their parents (447 mothers, 435 fathers) and siblings (1176), was set up to investigate death rates from various causes and cancer incidence patterns. In ...
    • Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. 

      Swerdlow, AJ; Hermon, C; Jacobs, PA; Alberman, E; Beral, V; Daker, M; Fordyce, A; Youings, S (2001-03)
      Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations ...
    • Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic 

      Stratton, M (2001-04)
      Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. Purpose: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial breast and ovarian ...
    • The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 

      Patel, H; Hart, PE; Warner, TT; Houlston, RS; Patton, MA; Jeffery, S; Crosby, AH (2001-07)
      The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form ...
    • Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease. 

      Popat, S; Hearle, N; Hogberg, L; Braegger, CP; O'Donoghue, D; Falth-Magnusson, K; Holmes, GK; Howdle, PD; Jenkins, H; Johnston, S; Kennedy, NP; Kumar, PJ; Logan, RF; Marsh, MN; Mulder, CJ; Torinsson Naluai, A; Sjoberg, K; Stenhammar, L; Walters, JR; Jewell, DP; Houlston, RS (2002-03)
      Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated ...
    • The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS). 

      Leach, MO; Eeles, RA; Turnbull, LW; Dixon, AK; Brown, J; Hoff, RJ; Coulthard, A; Dixon, JM; Easton, DF; Evans, DG; Gilbert, FJ; Hawnaur, J; Hayes, C; Kessar, P; Lakhani, S; Liney, G; Moss, SM; Padhani, AP; Pointon, LJ; Sydenham, M; Walker, LG; Warren, RM; Haites, NE; Morrison, P; Cole, T; Rayter, Z; Donaldson, A; Shere, M; Rankin, J; Goudie, D; Steel, CM; Davidson, R; Chu, C; Ellis, I; Mackay, J; Hodgson, SV; Homfray, T; Douglas, F; Quarrell, OW; Eccles, DM; Gilbert, FG; Crothers, G; Walker, CP; Jones, A; Slack, N; Britton, P; Sheppard, DG; Walsh, J; Whitehouse, G; Teh, W; Rankin, S; Boggis, C; Potterton, J; McLean, L; Gordon, PA; Rubin, C (2002-09)
      The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS) is in progress. The study design, accrual to date, and related research projects are described. Revised accrual rates ...
    • Localisation of susceptibility genes for familial testicular germ cell tumour 

      Rapley, L; Stratton, M (2003-01)
      Localisation of susceptibility genes for familial testicular germ cell tumour. Approximately 1700 men in the United Kingdom develop testicular germ cell tumours (TGCT) per year. Among the known risk factors a family history ...
    • Genetic predisposition to testicular germ-cell tumours. 

      Rapley, L (2004-06)
      Genetic predisposition to testicular germ-cell tumours Testicular germ-cell tumours (TGCT) are the most common neoplasm in young men. Various studies have suggested the existence of an inherited predisposition to development ...
    • Intragenic ERBB2 kinase mutations in tumours 

      Cooper, C; Stratton, M (2004-09)
    • A survey of RNA editing in human brain 

      Stratton, M (2004-12)
      A survey of RNA editing in human brain We have conducted a survey of RNA editing in human brain by comparing sequences of clones from a human brain cDNA library to the reference human genome sequence and to genomic DNA ...
    • Actin-myosin-based contraction is responsible for apoptotic nuclear disintegration 

      Stratton, Michael (2005-01)
      Actin-myosin-based contraction is responsible for apoptotic nuclear disintegration Membrane blebbing during the apoptotic execution phase results from caspase-mediated cleavage and activation of ROCK I. Here, we show that ...
    • A survey of homozygous deletions in human cancer genomes 

      Stratton, M (2005-03)
      A survey of homozygous deletions in human cancer genomes Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. ...
    • A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer 

      Cooper, C; Lakhani, S; Stratton, M (2005-06)
      A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer We examined the coding sequence of 518 protein kinases, similar to 1.3 Mb of DNA per sample, in ...
    • Somatic mutations of the protein kinase gene family in human lung cancer 

      Cooper, C; Lakhani, S; Stratton, M (2005-09)
      Somatic mutations of the protein kinase gene family in human lung cancer Protein kinases are frequently mutated in human cancer and inhibitors of mutant protein kinases have proven to be effective anticancer drugs. We ...
    • The predicted impact of coding single nucleotide polymorphisms database. 

      Rudd, MF; Williams, RD; Webb, EL; Schmidt, S; Sellick, GS; Houlston, RS (2005-11)
      Nonsynonymous single nucleotide polymorphisms (nsSNP) have the potential to affect the structure or function of expressed proteins and are, therefore, likely to represent modifiers of inherited susceptibility. We have ...
    • Familial gigantism caused by an NSD1 mutation. 

      van Haelst, MM; Hoogeboom, JJ; Baujat, G; Brüggenwirth, HT; Van de Laar, I; Coleman, K; Rahman, N; Niermeijer, MF; Drop, SL; 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. ...
    • RNA editing of human microRNAs 

      Stratton, M (2006)
      BACKGROUND: MicroRNAs (miRNAs) are short RNAs of around 22 nucleotides that regulate gene expression. The primary transcripts of miRNAs contain double-stranded RNA and are therefore potential substrates for adenosine to ...