Brooke-spiegler syndrome: Report of 10 patients from 8 families with novel germline mutations: Evidence of diverse somatic mutations in the same patient regardless of tumor type

Diagnostic Molecular Pathology

Volumn 19, Issue 2, 2010, Pages 83-91

  Sima, Radek ^a   Vanecek, Tomas ^a   Kacerovska, Denisa ^a   Trubac, Pavel ^c   Cribier, Bernard ^e   Rutten, Arno ^f   Vazmitel, Marina ^h   Spagnolo, Dominic V ⁱ   Litvik, Radek ^b   Vantuchova, Yvetta ^b   Weyers, Wolfgang ^g   Pearce, Robert L ^j   Pearn, John ^j,k   Michal, Michal ^a,d   Kazakov, Dmitry V ^a,l  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL OSTRAVA   (Czech Republic)

^c Hospital Ceske Budejovice   (Czech Republic)

^d BIOPTICAL LABORATORY   (Czech Republic)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^f Dermatopathologische Gemeinschaftspraxis   (Germany)

^g Center for Dermatopathology Freiburg   (Germany)

^h Academy of Medical Postgraduate Education of Belarus   (Belgium)

ⁱ PathWest Laboratory Medicine   (Netherlands)

^j Hollywood Specialist Centre   (Netherlands)

^k ROYAL CHILDREN'S HOSPITAL   (Australia)

^l CHARLES UNIVERSITY   (Czech Republic)

more..

Author keywords

Brooke Spiegler syndrome; CYLD; Cylindroma; Germline mutation; Loss of heterozygosity; Skin adnexal tumors; Somatic mutation; Spiradenocylindroma; Spiradenoma; Trichoblastoma

Indexed keywords

PROTEIN CYLD; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BROOKE SYNDROME; CARCINOGENESIS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GERM LINE; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SOMATIC MUTATION; STOP CODON;

EID: 77953166790     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/PDM.0b013e3181ba2d96     Document Type: Article

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