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Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13

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Abstract.

Familial cylindromatosis is an autosomal dominant predisposition to multiple neoplasms of the skin appendages. The susceptibility gene has previously been mapped to chromosome 16q12–q13 and has features of a recessive oncogene/tumour suppressor gene. We have now evaluated 19 families with this disease by a combination of genetic linkage analysis and loss of heterozygosity in cylindromas from affected individuals. All 15 informative families show linkage to this locus, providing no evidence for genetic heterogeneity. Recombinant mapping has placed the gene in an interval of approximately 1 Mb. There is no evidence, between families, of haplotype sharing that might be indicative of common founder mutations.

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Authors and Affiliations

  1. Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey, SM2 5NG, UK, , , , ,

    M. Takahashi, E. Rapley, P.J. Biggs, S. Seal, J. Mangion, W. Warren, G. Bignell & M.R. Stratton

  2. Department of Histopathology, Royal Free & University College, Medical School, UCL, Rockefeller Building, University Street, London, UK, , , , ,

    S.R Lakhani

  3. Department of Surgery Anathesia and Intensive Care, Maryborough Base Hospital, Queensland, Australia, , , , ,

    D. Cooke

  4. OHSU Department of Surgery, 3181 S. W. Sam Jackson Park Road, Portland, Oregon, USA, , , , ,

    J. Hansen

  5. Department of Clinical Genetics, Oxford Radcliffe Hospital Trust, The Churchill, Oxford, UK, , , , ,

    E. Blair

  6. Hautklinik der Medizinischen Einrichtungen, Heinrich-Heine-Universitat, Dusseldorf, Germany, , , , ,

    B. Hofmann

  7. Klinikum der Christian-Albrechts-Universität zu Kiel, Institut für Humangenetik, Schwanenweg, Kiel, Germany, , , , ,

    R. Siebert

  8. Yorkshire Regional Genetics Service, Department of Clinical Genetics, Leeds, Yorkshire, UK, , , , ,

    G. Turner

  9. Regional Genetic Service, Central Manchester Healthcare NHS Trust, St Mary's Hospital, Hathersage Road, Manchester, UK, , , , ,

    D.G. Evans

  10. Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands, , , , ,

    C. Schrander-Stumpel

  11. Department of Human Genetics, University Medical Center, Utrecht, The Netherlands, , , , ,

    F.A. Beemer

  12. Department of Dermatology, University Medical Center, Utrecht, The Netherlands, , , , ,

    W.A. van Vloten

  13. Department of Human Genetics, University Medical Center, Leiden, The Netherlands, , , , ,

    M.H. Breuning

  14. Department of Clinical Genetics, Erasmus Universiteit Rotterdam, Rotterdam, The Netherlands, , , , ,

    A. van den Ouweland & D. Halley

  15. Groupe de Recherche sur l'Inflammation et le Cancer UPRES EA 2122, Laboratoire d'Oncologie Moleculaire, Centre Henri-Becquerel, Rue d'Amiens, Rouen, France, , , , ,

    B. Delpech

  16. Department of Dermatology, University of Iowa, Iowa City, Iowa, USA, , , , ,

    M. Cleveland

  17. Centre for Cutaneous Research, St Bartholomew's and the Royal London School of Medicine and Dentistry, 2 Newark Street, London, UK, , , , ,

    I. Leigh

  18. Institute for Human Genetics, University of Newcastle, 19/20 Claremont Place, Newcastle-upon-Tyne, UK, , , , ,

    P. Chapman & J. Burn

  19. CHUV - Service de Dermatologie, Hopital Beaumont 04–421, 1011 Lausanne, Switzerland, , , , ,

    D. Hohl & J.-P. Görög

Authors
  1. M. Takahashi
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  2. E. Rapley
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  3. P.J. Biggs
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  4. S.R Lakhani
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  5. D. Cooke
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  6. J. Hansen
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  7. E. Blair
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  8. B. Hofmann
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  9. R. Siebert
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  10. G. Turner
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  11. D.G. Evans
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  12. C. Schrander-Stumpel
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  13. F.A. Beemer
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  14. W.A. van Vloten
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  15. M.H. Breuning
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  16. A. van den Ouweland
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  17. D. Halley
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  18. B. Delpech
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  19. M. Cleveland
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  20. I. Leigh
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  21. P. Chapman
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  22. J. Burn
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  23. D. Hohl
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  24. J.-P. Görög
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  25. S. Seal
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  26. J. Mangion
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  27. W. Warren
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  28. G. Bignell
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  29. M.R. Stratton
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Takahashi, M., Rapley, E., Biggs, P. et al. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13. Hum Genet 106, 58–65 (2000). https://doi.org/10.1007/s004399900227

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  • DOI: https://doi.org/10.1007/s004399900227

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