Article
Systematic genomic and translational efficiency studies of uveal melanoma.
PloS one - 1 Jan 2017
Johnson Chelsea Place, Kim Ivana K, Esmaeli Bita, Amin-Mansour Ali, Treacy Daniel J, Carter Scott L, Hodis Eran, Wagle Nikhil, Seepo Sara, Yu Xiaoxing, Lane Anne Marie, Gragoudas Evangelos S, Vazquez Francisca, Nickerson Elizabeth, Cibulskis Kristian, McKenna Aaron, Gabriel Stacey B, Getz Gad, Van Allen Eliezer M, 't Hoen Peter A C, Garraway Levi A, Woodman Scott E
Abstract excerpt
To further our understanding of the somatic genetic basis of uveal melanoma, we sequenced the protein-coding regions of 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1. The role of mutated EIF1AX was tested using loss of function approaches including viability and translational efficiency assays. Knockdown...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.