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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Diagnosing a Primary Leptomeningeal Melanoma by Gene Mutation Signature.
Johannes van de Nes,Karsten H. Wrede,Adrian Ringelstein,Mathias Stiller,Susanne Horn,Antje Sucker,Inga Möller,Simone L. Scholz,Rajmohan Murali,Marco Gessi,Dirk Schadendorf,Klaus G. Griewank +11 more
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Transcriptional repression of p21 by EIF1AX promotes the proliferation of breast cancer cells.
TL;DR: Dysregulation of the cell cycle is associated with the progression of malignant cancer, but its precise functional contribution is unknown.
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Ras–ERK1/2 signaling promotes the development of uveal melanoma by downregulating H3K14ac
TL;DR: Ras–ERK1/2 promoted uveal melanoma cells growth and migration by downregulating H3K14ac via MDM2‐mediated TIP60 degradation and CLR3 silence recovered H3k14ac expression and reversed the effect of Ras– ERK1 /2 on MP65 cell proliferation, migration and the mRNAs of ERK 1/2 downstream genes.
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Six-gene-based prognostic model predicts overall survival in patients with uveal melanoma.
Qi Wan,Jing Tang,Jianqun Lu,Lin Jin,Yaru Su,Shoubi Wang,Yaqi Cheng,Ying Liu,Chaoyang Li,Zhichong Wang +9 more
TL;DR: The six genes (SH2D3A, TMEM201, LZTS1, CREG1, NIPA1 and HIST1H4E) model might play a vital role in prognosis of UM, which should be helpful for further insight into the treatment of uveal melanoma.
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New targeted and epigenetic therapeutic strategies for the treatment of uveal melanoma.
TL;DR: The preclinical rationale for the development of targeted therapies and current strategies currently being studied in clinical trials or will be in the near future are described.
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