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

Meiko Takahashi, Elizabeth Rapley, Patrick J. Biggs, Sunil R. Lakhani, David Cooke, Juliana Hansen, Edward Blair, B. Hofmann, Reiner Siebert, Gwen Turner, D. Gareth Evans, Connie Schrander-Stumpel, Frits A. Beemer, Willem A. Van Vloten, Martijn H. Breuning, Ans Van Den Ouweland, Dicky Halley, Bertrand Delpech, Mark Cleveland, Irene LeighPam Chapman, John Burn, Daniel Hohl, Jean Philippe Görög, Sheila Seal, Jon Mangion, William Warren, Graham Bignell, Michael R. Stratton

    Research output: Contribution to journalArticle

    41 Citations (Scopus)

    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.

    Original languageEnglish (US)
    Pages (from-to)58-65
    Number of pages8
    JournalHuman Genetics
    Volume106
    Issue number1
    StatePublished - 2000

    Fingerprint

    Genetic Heterogeneity
    Tumor Suppressor Genes
    Chromosomes
    Adenoid Cystic Carcinoma
    Genetic Linkage
    Loss of Heterozygosity
    Skin Neoplasms
    Haplotypes
    Genes
    Mutation
    Familial cylindromatosis

    ASJC Scopus subject areas

    • Genetics(clinical)
    • Genetics

    Cite this

    Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., ... Stratton, M. R. (2000). Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Human Genetics, 106(1), 58-65.

    Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. / Takahashi, Meiko; Rapley, Elizabeth; Biggs, Patrick J.; Lakhani, Sunil R.; Cooke, David; Hansen, Juliana; Blair, Edward; Hofmann, B.; Siebert, Reiner; Turner, Gwen; Evans, D. Gareth; Schrander-Stumpel, Connie; Beemer, Frits A.; Van Vloten, Willem A.; Breuning, Martijn H.; Van Den Ouweland, Ans; Halley, Dicky; Delpech, Bertrand; Cleveland, Mark; Leigh, Irene; Chapman, Pam; Burn, John; Hohl, Daniel; Görög, Jean Philippe; Seal, Sheila; Mangion, Jon; Warren, William; Bignell, Graham; Stratton, Michael R.

    In: Human Genetics, Vol. 106, No. 1, 2000, p. 58-65.

    Research output: Contribution to journalArticle

    Takahashi, M, Rapley, E, Biggs, PJ, Lakhani, SR, Cooke, D, Hansen, J, Blair, E, Hofmann, B, Siebert, R, Turner, G, Evans, DG, Schrander-Stumpel, C, Beemer, FA, Van Vloten, WA, Breuning, MH, Van Den Ouweland, A, Halley, D, Delpech, B, Cleveland, M, Leigh, I, Chapman, P, Burn, J, Hohl, D, Görög, JP, Seal, S, Mangion, J, Warren, W, Bignell, G & Stratton, MR 2000, 'Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13', Human Genetics, vol. 106, no. 1, pp. 58-65.
    Takahashi, Meiko ; Rapley, Elizabeth ; Biggs, Patrick J. ; Lakhani, Sunil R. ; Cooke, David ; Hansen, Juliana ; Blair, Edward ; Hofmann, B. ; Siebert, Reiner ; Turner, Gwen ; Evans, D. Gareth ; Schrander-Stumpel, Connie ; Beemer, Frits A. ; Van Vloten, Willem A. ; Breuning, Martijn H. ; Van Den Ouweland, Ans ; Halley, Dicky ; Delpech, Bertrand ; Cleveland, Mark ; Leigh, Irene ; Chapman, Pam ; Burn, John ; Hohl, Daniel ; Görög, Jean Philippe ; Seal, Sheila ; Mangion, Jon ; Warren, William ; Bignell, Graham ; Stratton, Michael R. / Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. In: Human Genetics. 2000 ; Vol. 106, No. 1. pp. 58-65.
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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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    AU - Takahashi, Meiko

    AU - Rapley, Elizabeth

    AU - Biggs, Patrick J.

    AU - Lakhani, Sunil R.

    AU - Cooke, David

    AU - Hansen, Juliana

    AU - Blair, Edward

    AU - Hofmann, B.

    AU - Siebert, Reiner

    AU - Turner, Gwen

    AU - Evans, D. Gareth

    AU - Schrander-Stumpel, Connie

    AU - Beemer, Frits A.

    AU - Van Vloten, Willem A.

    AU - Breuning, Martijn H.

    AU - Van Den Ouweland, Ans

    AU - Halley, Dicky

    AU - Delpech, Bertrand

    AU - Cleveland, Mark

    AU - Leigh, Irene

    AU - Chapman, Pam

    AU - Burn, John

    AU - Hohl, Daniel

    AU - Görög, Jean Philippe

    AU - Seal, Sheila

    AU - Mangion, Jon

    AU - Warren, William

    AU - Bignell, Graham

    AU - Stratton, Michael R.

    PY - 2000

    Y1 - 2000

    N2 - 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.

    AB - 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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