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Genetic and epigenetic insights into uveal melanoma
Author(s) -
Sharma A.,
Stei M.M.,
Fröhlich H.,
Holz F.G.,
Loeffler K.U.,
HerwigCarl M.C.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13136
Subject(s) - epigenetics , context (archaeology) , disease , melanoma , epigenesis , bioinformatics , biology , computational biology , medicine , genetics , dna methylation , pathology , gene , gene expression , paleontology
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.