Supplementary Figures S1-S7 from SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

Furney, Simon J.; Pedersen, Malin; Gentien, David; Dumont, Amaury G.; Rapinat, Audrey; Desjardins, Laurence; Turajlic, Samra; Piperno-Neumann, Sophie; de la Grange, Pierre; Roman-Roman, Sergio; Stern, Marc-Henri; Marais, Richard

doi:10.1158/2159-8290.22528833.v1

Supplementary Figures S1-S7 from SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

https://doi.org/10.1158/2159-8290.22528833

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posted on 2023-04-03, 20:24 authored by Simon J. Furney, Malin Pedersen, David Gentien, Amaury G. Dumont, Audrey Rapinat, Laurence Desjardins, Samra Turajlic, Sophie Piperno-Neumann, Pierre de la Grange, Sergio Roman-Roman, Marc-Henri Stern, Richard Marais

Supplementary Figures S1-S7 - PDF file 4131K, This file contains Supplementary Figures S1-S7. S1 Summary of somatic copy number alterations in uveal melanoma S2 Circos plots of uveal melanoma genomes S3 Distribution of missense mutations in SF3B1 S4 Kaplan-Meier curves for uveal melanoma patients S5 Alternative splicing in Harbour et al. SF3B1 mutant uveal melanomas S6 qRT-PCR of alternative gene splicing in SF3B1 mutant uveal melanoma S7 SF3B1 mutations Harbour et al. uveal melanomas

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DOI - Is supplement to SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

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Uveal melanoma, the most common eye malignancy, causes severe visual morbidity and is fatal in approximately 50% of patients. Primary uveal melanoma can be cured by surgery or radiotherapy, but the metastatic disease is treatment refractory. To understand comprehensively uveal melanoma genetics, we conducted single-nucleotide polymorphism arrays and whole-genome sequencing on 12 primary uveal melanomas. We observed only approximately 2,000 predicted somatic single-nucleotide variants per tumor and low levels of aneuploidy. We did not observe an ultraviolet radiation DNA damage signature, but identified SF3B1 mutations in three samples and a further 15 mutations in an extension cohort of 105 samples. SF3B1 mutations were associated with good prognosis and were rarely coincident with BAP1 mutations. SF3B1 encodes a component of the spliceosome, and RNA sequencing revealed that SF3B1 mutations were associated with differential alternative splicing of protein coding genes, including ABCC5 and UQCC, and of the long noncoding RNA CRNDE.Significance: Our data show that despite its dismal prognosis, uveal melanoma is a relatively simple genetic disease characterized by recurrent chromosomal losses and gains and a low mutational burden. We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing. Cancer Discov; 3(10); 1122–9. ©2013 AACR.This article is highlighted in the In This Issue feature, p. 1083

Supplementary Figures S1-S7 from <i>SF3B1</i> Mutations Are Associated with Alternative Splicing in Uveal Melanoma

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