The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers
Open accessAbstract
Synonymous mutations change the sequence of a gene without directly altering the sequence of the encoded protein. Here, we present evidence that these "silent" mutations frequently contribute to human cancer. Selection on synonymous mutations in oncogenes is cancer-type specific, and although the functional consequences of cancer-associated synonymous mutations may be diverse, they recurrently alter exonic motifs that regulate splicing and are associated with changes in oncogene splicing in tumors. The p53 tumor suppressor (TP53) also has recurrent synonymous mutations, but, in contrast to those in oncogenes, these are adjacent to splice sites and inactivate them. We estimate that between one in two and one in five silent mutations in oncogenes have been selected, equating to ~6%- 8% of all selected single-nucleotide changes in these genes. In addition, our analyses suggest that dosage-sensitive oncogenes have selected mutations in their 3' UTRs.
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Cites
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High-Resolution Profiling of Histone Methylations in the Human Genome
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“The shown SF2/ASF motif is from Smith et al. (2006) and the hnRNP H2 motif is from Ray et al. (2013).”
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Cited by
Predicting splicing from primary sequence with deep learning
Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.015 · Cited by 2,853
High burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770
Universal Patterns of Selection in Cancer and Somatic Tissues
Martincorena, I., Raine, K. M., Gerstung, M., Dawson, K. J., Haase, K., Van Loo, P., Davies, H., Stratton, M. R., & Campbell, P. J. (2017) · Cell · doi:10.1016/j.cell.2017.09.042 · Cited by 1,523
Mechanisms and Regulation of Alternative Pre-mRNA Splicing
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Somatic mutant clones colonize the human esophagus with age
Martincorena, I., Fowler, J. C., Wabik, A., Lawson, A. R. J., Abascal, F., Hall, M. W. J., Cagan, A., Murai, K., Mahbubani, K., Stratton, M. R., et al. (2018) · Science · doi:10.1126/science.aau3879 · Cited by 1,113
Metadata
- Authors
- Supek, F., Miñana, B., Valcárcel, J., Gabaldón, T., & Lehner, B.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 156
- Issue
- 6
- Pages
- 1324-1335
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2075661710
- Cited by
- 557
- References
- 16
- FWCI
- 14.38
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Supek, F., Miñana, B., Valcárcel, J., Gabaldón, T., & Lehner, B. (2014). Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers. Cell. https://doi.org/10.1016/j.cell.2014.01.051
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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.
