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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 - 1 Jan 2000

Takahashi M, Rapley E, Biggs P J, Lakhani S R, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans D G, Schrander-Stumpel C, Beemer F A, van Vloten W A, Breuning M H, van den Ouweland A, Halley D, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Görög J P, Seal S, Mangion J

Abstract excerpt

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 di...

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Share to Carcinoma, Adenoid Cystic
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10982183
DOI: 10.1007/s004399900227

Genes

CYLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10982183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.PMID 10982183Read ↗

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Inherited cylindromas: lessons from a rare tumour.Semantic proximity Read ↗

Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery.Semantic proximity Read ↗

The cylindromatosis (CYLD) gene and head and neck tumorigenesisSemantic proximity Read ↗

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.Semantic proximity Read ↗

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Genetic Testing in CYLD Cutaneous Syndrome: An UpdateSemantic proximity Read ↗

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