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.
N1 - Funding Information:
Acknowledgements We thank the families for their enthusiastic cooperation in these studies and Elaine Peacock for help in preparing the manuscript. Gwen Turner, Pam Chapman and John Burn are members of the ICRF Clinical Genetics Network under the direction of D. M. Butterworth, Histopathologist, North Manchester General Hospital. This work was supported by the Cancer Research Campaign.
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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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 -