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
Citations
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Genetic drivers of non-cutaneous melanomas: Challenges and opportunities in a heterogeneous landscape.
TL;DR: In this paper, the authors identify the genetic drivers within non-cutaneous melanomas and identify additional drivers in specific subtypes, integrative multi-omics analyses and analysis of the tumor immune microenvironment will expand knowledge in this field.
Journal ArticleDOI
Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas
Jasmine H. Francis,Thomas Wiesner,Tatyana Milman,Helen Won,Amy Y. Lin,Vivian S. Lee,Daniel M. Albert,Robert Folberg,Michael F. Berger,Devron H. Char,Brian P. Marr,David H. Abramson +11 more
TL;DR: The presence of GNAQ mutation in some iridociliary and optic-nerve melanocytomas suggests a possible relationship between ophthalmic melanocyToma and other ophthalic melanocytic neoplasms.
Journal ArticleDOI
Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color
TL;DR: In this paper , the authors compared the clinical, histopathologic, and genetic characteristics of uveal melanoma (UM) between eyes with different colors, including gray, blue, or green eyes.
Journal ArticleDOI
The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer
Alexander C. Leeksma,Ingrid A. M. Derks,M. Haidar Kasem,Emine Kilic,Annelies de Klein,Martine J. Jager,Arjan A. van de Loosdrecht,Joop H. Jansen,Veronika Navrkalová,Laura M. Faber,Nadja Zaborsky,Nadja Zaborsky,Alexander Egle,Alexander Egle,Thorsten Zenz,Šárka Pospíšilová,Omar Abdel-Wahab,Arnon P. Kater,Eric Eldering +18 more
TL;DR: In this paper, the authors investigated isogenic cell lines and treatment naive primary CLL samples without any TP53 and/or ATM defect, and found no significant effects of SF3B1 mutations on the ATM/p53 response, phosphorylation of H2AX and sensitivity to fludarabine.
Journal ArticleDOI
Chromosome 3 and 8q aberrations in Uveal Melanoma show greater impact on survival in patients with light iris versus dark iris color.
Annemijn P A Wierenga,Niels J. Brouwer,Maria Chiara Gelmi,Robert M. Verdijk,Robert M. Verdijk,Marc-Henri Stern,Zeynep Bas,Kabir Malkani,Sjoerd G. van Duinen,Arupa Ganguly,Wilma G. M. Kroes,Marina Marinkovic,Gregorius P M Luyten,Carol L. Shields,Martine J. Jager +14 more
TL;DR: In this article, the authors compared clinical, histopathologic, and genetic characteristics of uveal melanoma (UM) between eyes with different iris colors, and found that iris pigmentation might not only be related to predisposition to UM, but also to its behavior.
References
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