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Lookup NU author(s): Professor Sir John BurnORCiD
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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(s): 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, Gorog J-P, Seal S, Mangion J, Warren W, Bignell G, Stratton MR
Publication type: Article
Publication status: Published
Journal: Human Genetics
Print publication date: 01/01/2000
ISSN (print): 0340-6717
ISSN (electronic): 1432-1203
PubMed id: 10982183
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