Journal article
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(1), pp.58-65
01/01/2000
DOI: 10.1007/s004399900227
PMID: 10982183
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.
Details
- Title: Subtitle
- Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13
- Creators
- Meiko Takahashi - Institute of Cancer ResearchElizabeth Rapley - Institute of Cancer ResearchPatrick J. Biggs - Institute of Cancer ResearchSunil R. Lakhani - The Royal Free HospitalDavid Cooke - Department of Surgery Anathesia and Intensive Care, Maryborough Base Hospital, AustraliaJuliana Hansen - OHSU Department of Surgery, United StatesEdward Blair - Churchill HospitalB. Hofmann - Heinrich Heine University DüsseldorfReiner Siebert - Institut für HumangenetikGwen Turner - Yorkshire Regional Genetics Service, Department of Clinical Genetics, United KingdomD. Gareth Evans - St. Mary's HospitalConnie Schrander-Stumpel - Maastricht University Medical CentreFrits A. Beemer - University Medical Center UtrechtWillem A. Van Vloten - University Medical Center UtrechtMartijn H. Breuning - Leiden University Medical CenterAns Van Den Ouweland - Erasmus University RotterdamDicky Halley - Department of Clinical Genetics, Erasmus Universiteit Rotterdam, NetherlandsBertrand Delpech - Centre Henri BecquerelMark Cleveland - University of IowaIrene Leigh - Centre for Cutaneous Research, St. Bartholomew's Roy. London S., United KingdomPam Chapman - Institute for Human Genetics, University of Newcastle, United KingdomJohn Burn - Newcastle UniversityDaniel Hohl - Hôpital de BeaumontJean Philippe Görög - Hôpital de BeaumontSheila Seal - Institute of Cancer ResearchJon Mangion - Institute of Cancer ResearchWilliam Warren - Institute of Cancer ResearchGraham Bignell - Institute of Cancer ResearchMichael R. Stratton - Institute of Cancer Research
- Resource Type
- Journal article
- Publication Details
- Human genetics, Vol.106(1), pp.58-65
- DOI
- 10.1007/s004399900227
- PMID
- 10982183
- NLM abbreviation
- Hum Genet
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- Number of pages
- 8
- Grant note
- Cancer Research Campaign
- Language
- English
- Date published
- 01/01/2000
- Academic Unit
- Dermatology
- Record Identifier
- 9985163942102771
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