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 Leigh; Pam Chapman; John Burn; Daniel Hohl; Jean Philippe Görög; Sheila Seal; Jon Mangion; William Warren; Graham Bignell; Michael R. Stratton

doi:10.1007/s004399900227

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^*

^*Corresponding author for this work

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	58-65
Number of pages	8
Journal	Human Genetics
Volume	106
Issue number	1
DOIs	https://doi.org/10.1007/s004399900227
Publication status	Published - 1 Jan 2000

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Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Evans, D. G., Schrander-Stumpel, C., Beemer, F. A., Van Vloten, W. A., Breuning, M. H., Van Den Ouweland, A., Halley, D., Delpech, B., Cleveland, M., ... 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. https://doi.org/10.1007/s004399900227

@article{14c908786912459d98aacfb200acc43f,

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

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.",

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

year = "2000",

month = jan,

day = "1",

doi = "10.1007/s004399900227",

language = "English",

volume = "106",

pages = "58--65",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Nature",

number = "1",

}

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

TY - JOUR

T1 - Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

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 - 2000/1/1

Y1 - 2000/1/1

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.

UR - http://www.scopus.com/inward/record.url?scp=0034017283&partnerID=8YFLogxK

U2 - 10.1007/s004399900227

DO - 10.1007/s004399900227

M3 - Article

C2 - 10982183

AN - SCOPUS:0034017283

SN - 0340-6717

VL - 106

SP - 58

EP - 65

JO - Human Genetics

JF - Human Genetics

IS - 1

ER -

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

Abstract

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