Genetic and epigenetic insights into uveal melanoma. Issue 5 (24th January 2018)

• Record Type: Journal Article
• Authors: Sharma, A.; Stei, M.M.; Fröhlich, H.; Holz, F.G.; Loeffler, K.U.; Herwig‐Carl, M.C.
• Is Part Of: Clinical genetics. Volume 93:Issue 5(2018)
• Page Start: 952
• Page End: 961
• Publication Date: 2018-01-24
• Subjects: epigenetics -- eye -- genetics -- pathway -- STRING analysis -- tumor -- uveal melanoma; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13136
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : Uveal melanoma (UM) is the most frequent primary intraocular tumor in Caucasian adults and is potentially fatal if metastases develop. While several prognostic genetic changes have been identified in UM, epigenetic influences are now getting closer attention. Recent technological advances have allowed to exam the human genome to a greater extent and have improved our understanding of several diseases including malignant tumors. In this context, there has been tremendous progress in the field of UM pathogenesis. Herein, we review the literature with emphasis on genetic alterations, epigenetic modifications and signaling pathways as well as possible biomarkers in UM. In addition, different research models for UM are discussed. New insights and major challenges are outlined in order to evaluate the current status for this potentially devastating disease. Abstract : Genetic epigenetic and predisposing factor contribute to the pathogenesis of uveal melanoma