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Article

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.

Familial cancer - 1 Mar 2011

van den Ouweland Ans M W, Elfferich Peter, Lamping Roy, van de Graaf Raoul, van Veghel-Plandsoen Monique M, Franken S M, Houweling A C

Abstract excerpt

Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, were used. Here we describe the identification of a larger rearrangement identified by Quantitative PCR analysis of CYLD,...

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Share to Carcinoma, Adenoid Cystic
Share to Deubiquitinating Enzyme CYLD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplastic Syndromes, Hereditary

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Share to Skin Neoplasms

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Source

Open in PubMed Open full text

Identifiers

PMID: 20972631
DOI: 10.1007/s10689-010-9393-y
PMCID: PMC3036809

Genes

CYLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.PMID 20972631Read ↗

Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.Semantic proximity Read ↗

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A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.Semantic proximity Read ↗

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

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.Semantic proximity Read ↗

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.Semantic proximity Read ↗

Brooke‐Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor‐suppressor genesSemantic proximity Read ↗

A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma.Semantic 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 ↗

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.Semantic proximity Read ↗

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.Semantic proximity Read ↗

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.Semantic proximity Read ↗

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