Article
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
American journal of human genetics - 3 Nov 2016
Royer-Bertrand Beryl, Torsello Matteo, Rimoldi Donata, El Zaoui Ikram, Cisarova Katarina, Pescini-Gobert Rosanna, Raynaud Franck, Zografos Leonidas, Schalenbourg Ann, Speiser Daniel, Nicolas Michael, Vallat Laureen, Klein Robert, Leyvraz Serge, Ciriello Giovanni, Riggi Nicolò, Moulin Alexandre P, Rivolta Carlo
Abstract excerpt
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage of tumor-control pairs in 33 samples (24 primary and 9 metastases). Genome-wide, the number of coding mutations was rather low (only 17 variants per tumor on average; range 7-28), thus radically different...
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