Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Marcel Martin,Marcel Martin,Lars Maßhöfer,Petra Temming,Sven Rahmann,Claudia H D Metz,Norbert Bornfeld,Johannes van de Nes,Ludger Klein-Hitpass,Alan G. Hinnebusch,Bernhard Horsthemke,Dietmar R. Lohmann,Michael Zeschnigk +12 more
TLDR
Using exome sequencing, recurrent somatic mutations in EIF1AX and SF3B1 are identified occurring in uveal melanomas with disomy 3, which rarely metastasize and are associated with poor prognosis.Abstract:
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations.read more
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Journal ArticleDOI
Focus on cutaneous and uveal melanoma specificities
TL;DR: Hypotheses to explain the differences in tumorigenic processes and genetic alterations and tumor biology between CM and UM are developed and might provide important clues for research avenues and the identification of actionable vulnerabilities suitable for the development of new therapeutic strategies for metastatic UM.
Journal ArticleDOI
GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma
Amanda R. Moore,Leili Ran,Youxin Guan,Jessica Sher,Tyler D. Hitchman,Jenny Q. Zhang,Catalina Hwang,Edward G. Walzak,Alexander N. Shoushtari,Sebastien Monette,Rajmohan Murali,Thomas Wiesner,Klaus G. Griewank,Ping Chi,Ping Chi,Yu Chen,Yu Chen +16 more
TL;DR: In human UM cell lines and murine models, RasGRP3 is specifically required for GNAQ/GNA11-driven Ras activation and tumorigenesis, which implicates Ras GRP3 as a critical node and a potential target in UM.
Journal ArticleDOI
SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeast.
TL;DR: It is proposed that SF3b1 functions to stabilize weak U2/BS duplexes to drive spliceosome assembly and splicing to support a model wherein conformational changes in SF3B1 promote U2 association with the BS independently of the action of the DEAD-box ATPase Prp5.
Journal ArticleDOI
Oncogenic G Protein GNAQ Induces Uveal Melanoma and Intravasation in Mice
TL;DR: The first transgenic mouse model of uveal melanoma is introduced, which develops cancers induced by expression of oncogenic GNAQ(Q209L) under control of the Rosa26 promoter, and provides suggestive evidence of a selective advantage for increased GNAZ(Q 209L) expression in human tumors.
Journal ArticleDOI
Uveal Melanoma: Current Trends in Diagnosis and Management.
Berçin Tarlan,Hayyam Kiratli +1 more
TL;DR: Prognosis can be most accurately predicted by genetic profiling of fine needle aspiration biopsy of the tumor before the treatment, and high-risk patients can now be identified for clinical trials that may lead to target-based therapies for metastatic diseases and adjuvant therapy which aims to prevent metastatic disease.
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