Cyld genetictesting for brooke-spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas

PLoS Currents

Volumn 7, Issue EVIDENCEONGENOMICTESTS, 2015, Pages

  Dubois, Anna ^a   Wilson, Valerie ^b   Bourn, David ^b   Rajan, Neil ^a,b  

^a ROYAL VICTORIA INFIRMARY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LESTAURTINIB; TROPOMYOSIN;

ADENOID CYSTIC CARCINOMA; ARTICLE; BROOKE SPIEGLER SYNDROME; CANCER PROGNOSIS; CANCER RISK; CLINICAL ASSESSMENT; CYLD GENE; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIDRADENOMA; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PUBLIC HEALTH; SIGNAL TRANSDUCTION; TRICHOEPITHELIOMA; TUMOR SUPPRESSOR GENE;

EID: 84959421839     PISSN: None     EISSN: 21573999     Source Type: Journal    
DOI: 10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db     Document Type: Article

References (8)

1. Young AL, Kellermayer R, Szigeti R et al. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet 2006;70:246-249.
2. Rajan N, Langtry JAA, Ashworth A et al. Tumor mapping in two large multigeneration families with CYLD mutations: Implications for patient management and tumor induction. Arch Dermatol 2009;145(11):1277-1284.
3. Freedman AM, Woods JE. Total scalp excision and auricular resurfacing for dermal cylindroma (turban tumour). Ann Plast Surg 1989;22:50-57.
4. Rajan N, Trainer AH, Burn J et al. Familial Cylindromatosis and Brooke-Spiegler Syndrome: A review of current therapeutic approaches and the surgical challenges posed by two affected families. Dermatol Surg 2009;35:845-852.
5. Oosterkamp HM, Neering H, Nijman SM, et al. An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006;155:182-185.
6. Rajan N, Elliot R, Clewes O, et al. Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Oncogene 2011;30(41):4243-4260.
7. Vanecek T, Halbhuber Z, Kacerovska D, Martinek P, Sedivcova M, Carr RA, Slouka D, Michal M, Kazakov DV. Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma. Am J Dermatopathol. 2014 Nov;36(11):868-74.
8. Sagar S, Chernoff KA, Lodha S, et al. CYLD mutations in familial skin appendage tumours. J Med Genet 2008;45(5):298-302.