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Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
Open accessAbstract
Uveal melanoma is the most common primary cancer of the eye and often results in fatal metastasis. Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis. Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas.
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Citations
Cites
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103283 · Cited by 1,222
Cited by
RNA splicing dysregulation and the hallmarks of cancer
Bradley, R. K., & Anczuków, O. (2023) · Nature Reviews Cancer · doi:10.1038/s41568-022-00541-7 · Cited by 579
Therapeutic targeting of splicing in cancer
Lee, S. C.-W., & Abdel-Wahab, O. (2016) · Nature Medicine · doi:10.1038/nm.4165 · Cited by 561
Urbanski, L. M., Leclair, N., & Anczuków, O. (2018) · WIREs RNA · doi:10.1002/wrna.1476 · Cited by 389
Regulation of the epigenome by vitamin C
Young, J. I., Züchner, S., & Wang, G. (2015) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-071714-034228 · Cited by 319
Chandran, S. S., Somerville, R. P. T., Yang, J. C., Sherry, R. M., Klebanoff, C. A., Goff, S. L., Wunderlich, J. R., Danforth, D. N., Zlott, D., Paria, B. C., et al. (2017) · The Lancet Oncology · doi:10.1016/s1470-2045(17)30251-6 · Cited by 292
Metadata
- Authors
- Harbour, J. W., Roberson, E. D. O., Anbunathan, H., Onken, M. D., Worley, L. A., & Bowcock, A. M.
- Venue
- Nature Genetics
- Published
- 2013-01-13
- Volume
- 45
- Issue
- 2
- Pages
- 133-135
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1979233636
- Cited by
- 516
- References
- 1
- FWCI
- 37.35
- Type
- journal article
- Language
- en
- Open access
- green
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- Harbour, J. W., Roberson, E. D. O., Anbunathan, H., Onken, M. D., Worley, L. A., & Bowcock, A. M. (2013). Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nature Genetics. https://doi.org/10.1038/ng.2523
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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