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" |
