TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours Journal Article


Authors: Griewank, K. G.; Murali, R.; Schilling, B.; Scholz, S.; Sucker, A.; Song, M.; Süsskind, D.; Grabellus, F.; Zimmer, L.; Hillen, U.; Steuhl, K. P.; Schadendorf, D.; Westekemper, H.; Zeschnigk, M.
Article Title: TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours
Abstract: Background:Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.Methods:The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.Results:Mutations of the TERT promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.Conclusion:Mutations of TERT promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas. © 2013 Cancer Research UK. All rights reserved.
Keywords: clinical article; human tissue; aged; gene mutation; overall survival; promoter region; sequence analysis; disease free survival; cancer staging; follow up; ultraviolet radiation; melanoma; wild type; telomerase; cancer genetics; telomerase reverse transcriptase; uvea melanoma; b raf kinase; dermatology; cutaneous melanoma; ophthalmology; chromosome 3; oncogene n ras; monosomy; disomy; conjunctiva tumor; conjunctival melanoma
Journal Title: British Journal of Cancer
Volume: 109
Issue: 2
ISSN: 0007-0920
Publisher: Nature Publishing Group  
Date Published: 2013-07-23
Start Page: 497
End Page: 501
Language: English
DOI: 10.1038/bjc.2013.312
PROVIDER: scopus
PMCID: PMC3721405
PUBMED: 23799844
DOI/URL:
Notes: --- - "Export Date: 4 September 2013" - "CODEN: BJCAA" - "Source: Scopus"
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  1. Rajmohan Murali
    219 Murali