The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma
Open accessAbstract
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
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Cites
PD-1 and PD-L1 Immune Checkpoint Blockade to Treat Breast Cancer
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
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Mutations in GNA11 in Uveal Melanoma
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Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
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Cited by
Neoantigens: promising targets for cancer therapy
Xie, N., Shen, G., Gao, W., Huang, Z., Huang, C., & Fu, L. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01270-x · Cited by 1,020
Roles and mechanisms of alternative splicing in cancer — implications for care
Bonnal, S. C., López-Oreja, I., & Valcárcel, J. (2020) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-0350-x · Cited by 731
Combination Therapy with Anti–CTLA-4 and Anti–PD-1 Leads to Distinct Immunologic Changes In Vivo
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Metastatic disease from uveal melanoma: treatment options and future prospects
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Alsafadi, S., Houy, A., Battistella, A., Popova, T., Wassef, M., Henry, E., Tirode, F., Constantinou, A., Piperno-Neumann, S., Roman-Roman, S., et al. (2016) · Nature Communications · doi:10.1038/ncomms10615 · Cited by 386
Self-citation
Metadata
- Authors
- Furney, S. J., Pedersen, M., Gentien, D., Dumont, A. G., Rapinat, A., Desjardins, L., Turajlic, S., Piperno-Neumann, S., de la Grange, P., Roman-Roman, S., Stern, M.-H., & Marais, R.
- Venue
- Cancer Discovery
- Published
- 2013-10-01
- Volume
- 3
- Issue
- 10
- Pages
- 1122-1129
- ISSN
- 2159-8274 (ISSN-L)
- 2159-8290
- OpenAlex
- W2098835477
- Cited by
- 434
- References
- 31
- FWCI
- 26.80
- Type
- journal article
- Language
- en
- Open access
- green
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- Furney, S. J., Pedersen, M., Gentien, D., Dumont, A. G., Rapinat, A., Desjardins, L., Turajlic, S., Piperno-Neumann, S., de la Grange, P., Roman-Roman, S., Stern, M.-H., & Marais, R. (2013). SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma. Cancer Discovery. https://doi.org/10.1158/2159-8290.cd-13-0330
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
