Universität zu Köln

Tantcheva-Poor, Iliana, Vanecek, Tomas, Lurati, Massimo C. R., Rychly, Boris, Kempf, Werner ORCID: 0000-0002-6552-8629, Michal, Michal and Kazakov, Dmitry V. (2016). Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. Dermatology, 232 (1). S. 30 - 38. BASEL: KARGER. ISSN 1421-9832

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Abstract

Brooke-Spiegler syndrome is a rare autosomal-dominant genetic disorder characterized by multiple adnexal tumors, including cylindromas, spiradenomas, spiradenocylindromas and trichoepitheliomas. It is caused by germline CYLD mutations commonly leading to a premature stop codon. We here report on 3 novel CYLD mutations in 3 unrelated BSS patients, including the classic phenotype, multiple familial trichoepitheliomas phenotype and malignant transformation. These included c.1821_1826+1delinsCT/L607Ffs*9, c.2666A>T/p.D889V and c.2712delT/p.905Kfs*8. By extending the spectrum of CYLD mutations, better understanding of the molecular mechanisms of BSS can be gained, which might later assist in finding new treatment options. (C) 2015 S. Karger AG, Basel

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Tantcheva-Poor, Iliana UNSPECIFIED UNSPECIFIED UNSPECIFIED Vanecek, Tomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Lurati, Massimo C. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rychly, Boris UNSPECIFIED UNSPECIFIED UNSPECIFIED Kempf, Werner UNSPECIFIED orcid.org/0000-0002-6552-8629 UNSPECIFIED Michal, Michal UNSPECIFIED UNSPECIFIED UNSPECIFIED Kazakov, Dmitry V. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-291280
DOI:	10.1159/000437303
Journal or Publication Title:	Dermatology
Volume:	232
Number:	1
Page Range:	S. 30 - 38
Date:	2016
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	1421-9832
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TUMOR-SUPPRESSOR GENE; SOMATIC-MUTATIONS; PREEXISTING SPIRADENOMA; NONSENSE MUTATION; CYLINDROMATOSIS; SKIN; NEOPLASMS; SPIRADENOCYLINDROMA; DIFFERENTIATION; ASSOCIATION Multiple languages Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/29128