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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2000-9-22
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0340-6717
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pubmed:author |
pubmed-author:BeemerF AFA,
pubmed-author:BiggsP JPJ,
pubmed-author:BlairEE,
pubmed-author:BreuningM HMH,
pubmed-author:BurgMM,
pubmed-author:ChapmanPP,
pubmed-author:ClevelandMM,
pubmed-author:CookeDD,
pubmed-author:DelpechBB,
pubmed-author:EvansD GDG,
pubmed-author:GörögJ PJP,
pubmed-author:HallerOO,
pubmed-author:HansenJJ,
pubmed-author:HofmannBB,
pubmed-author:HohnBB,
pubmed-author:LakhaniS RSR,
pubmed-author:LeighII,
pubmed-author:MangionJJ,
pubmed-author:RapleyEE,
pubmed-author:Schrander-StumpelCC,
pubmed-author:SealSS,
pubmed-author:SiebertRR,
pubmed-author:TakahashiMM,
pubmed-author:TurnerGG,
pubmed-author:van VlotenW AWA,
pubmed-author:van den OuwelandAA
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pubmed:issnType |
Print
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pubmed:volume |
106
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
58-65
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:10982183-Carcinoma, Adenoid Cystic,
pubmed-meshheading:10982183-Chromosomes, Human, Pair 16,
pubmed-meshheading:10982183-Female,
pubmed-meshheading:10982183-Genetic Heterogeneity,
pubmed-meshheading:10982183-Genetic Linkage,
pubmed-meshheading:10982183-Genetic Predisposition to Disease,
pubmed-meshheading:10982183-Genotype,
pubmed-meshheading:10982183-Haplotypes,
pubmed-meshheading:10982183-Humans,
pubmed-meshheading:10982183-Lod Score,
pubmed-meshheading:10982183-Loss of Heterozygosity,
pubmed-meshheading:10982183-Male,
pubmed-meshheading:10982183-Microsatellite Repeats,
pubmed-meshheading:10982183-Pedigree,
pubmed-meshheading:10982183-Polymorphism, Genetic,
pubmed-meshheading:10982183-Skin Neoplasms,
pubmed-meshheading:10982183-Syndrome
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pubmed:year |
2000
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pubmed:articleTitle |
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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pubmed:affiliation |
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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