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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Book ChapterDOI
Clinical/Commercial Genetic Testing in UM
Thomas M. AabergJr,Aditya Shah +1 more
TL;DR: The science behind the tests, the significance of the reported test results, and a look at the future of cytogenetic analysis of the tumor DNA are explained.
Ocular melanocytes respond to oncogenic GNAQQ209L differently compared to epidermal and dermal melanocytes in mice
TL;DR: .........................................................................
Posted ContentDOI
Analytical validation and performance of a 7-gene next-generation sequencing panel in uveal melanoma
Katherina M Alsina,Lauren Meldi Sholl,Kyle R. Covington,Suzette M Arnal,Michael M Durante,Christina L. Decatur,John F. Stone,Kristen M. Oelschlager,J. William Harbour,Federico A. Monzon,Robert W. Cook,Sherri Borman +11 more
TL;DR: Katherina Maria Alsina Castle Biosciences Inc Lauren M Sholl Castle bioscience Inc Kyle R Covington Castle B biosciences INC Suzette M Arnal Castle BiosisciencesInc Michael M Durante University of Miami Bascom Palmer Eye Institute
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Catherine D. Van Raamsdonk,Klaus G. Griewank,Michelle B. Crosby,Maria C. Garrido,Swapna S. Vemula,Thomas Wiesner,Anna C. Obenauf,Werner Wackernagel,Gary G. R. Green,Nancy Bouvier,M. Mert Sozen,Gail Baimukanova,Ritu Roy,Adriana Heguy,Igor Dolgalev,Raya Khanin,Klaus J. Busam,Michael R. Speicher,Joan M. O'Brien,Boris C. Bastian +19 more