Article
Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 May 2018
Smit Kyra N, van Poppelen Natasha M, Vaarwater Jolanda, Verdijk Robert, van Marion Ronald, Kalirai Helen, Coupland Sarah E, Thornton Sophie, Farquhar Neil, Dubbink Hendrikus-Jan, Paridaens Dion, de Klein Annelies, Kiliç Emine
Abstract excerpt
Uveal melanoma is a highly aggressive cancer of the eye, in which nearly 50% of the patients die from metastasis. It is the most common type of primary eye cancer in adults. Chromosome and mutation status have been shown to correlate with the disease-free survival. Loss of chromosome 3 and inactivating mutations in BAP1, which is located on chromosome 3, are strongly associated with 'high-risk' tumors that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.