Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

doi:10.1097/DAD.0b013e31824e7658

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

The American Journal of dermatopathology - 1 Feb 2013

Grossmann Petr, Vanecek Tomas, Steiner Petr, Kacerovska Denisa, Spagnolo Dominic V, Cribier Bernard, Rose Christian, Vazmitel Marina, Carlson J Andrew, Emberger Michael, Martinek Petr, Pearce Robert L, Pearn John, Michal Michal, Kazakov Dmitry V

Abstract excerpt

Brooke-Spiegler syndrome (BSS) is a rare, inherited, autosomal dominant disorder characterized by development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. The syndrome of multiple familial trichoepitheliomas (MFT) is considered a phenotypic variant of BSS in which patients present with trichoepitheliomas only. We studied germline and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Deubiquitinating Enzyme CYLD

Share to Frameshift Mutation

Share to Loss of Heterozygosity

Share to Neoplastic Syndromes, Hereditary

Share to Paraffin Embedding

Share to Skin

Source

Open in PubMed

Identifiers

PMID: 23249834
DOI: 10.1097/DAD.0b013e31824e7658

Genes

CYLD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.PMID 23249834Read ↗

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 ↗

Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors.Semantic proximity Read ↗

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline MutationsSemantic proximity Read ↗

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

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.Semantic proximity Read ↗

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

Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.Semantic proximity Read ↗

A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.Semantic proximity Read ↗

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.Semantic proximity Read ↗

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.Semantic proximity Read ↗

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.Semantic 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 ↗

⌁Select a neighboring publication to make it the new centre.