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.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: M
authors.initials: M
authors.lastname: Takahashi
authors.forename: E
authors.initials: E
authors.lastname: Rapley
authors.forename: P J
authors.initials: PJ
authors.lastname: Biggs
authors.forename: S R
authors.initials: SR
authors.lastname: Lakhani
authors.forename: D
authors.initials: D
authors.lastname: Cooke
authors.forename: J
authors.initials: J
authors.lastname: Hansen
authors.forename: E
authors.initials: E
authors.lastname: Blair
authors.forename: B
authors.initials: B
authors.lastname: Hofmann
authors.forename: R
authors.initials: R
authors.lastname: Siebert
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: W A
authors.initials: WA
authors.lastname: van Vloten
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: D
authors.initials: D
authors.lastname: Halley
authors.forename: B
authors.initials: B
authors.lastname: Delpech
authors.forename: M
authors.initials: M
authors.lastname: Cleveland
authors.forename: I
authors.initials: I
authors.lastname: Leigh
authors.forename: P
authors.initials: P
authors.lastname: Chapman
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: D
authors.initials: D
authors.lastname: Hohl
authors.forename: J P
authors.initials: JP
authors.lastname: Görög
authors.forename: S
authors.initials: S
authors.lastname: Seal
authors.forename: J
authors.initials: J
authors.lastname: Mangion
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011110:Polymorphism, Genetic; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome