The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Identification of recurrent SMO and BRAF mutations in ameloblastomas
Open accessAbstract
Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas of the maxilla, whereas BRAF mutations are predominant in tumors of the mandible. We show that a frequently occurring SMO alteration encoding p.Leu412Phe is an activating mutation and that its effect on Hedgehog-pathway activity can be inhibited by arsenic trioxide (ATO), an anti-leukemia drug approved by the US Food and Drug Administration (FDA) that is currently in clinical trials for its Hedgehog-inhibitory activity. In a similar manner, ameloblastoma cells harboring an activating BRAF mutation encoding p.Val600Glu are sensitive to the BRAF inhibitor vemurafenib. Our findings establish a new paradigm for the diagnostic classification and treatment of ameloblastomas.
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Mutations of the BRAF gene in human cancer
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Primer3—new capabilities and interfaces
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Activating Smoothened mutations in sporadic basal-cell carcinoma
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Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
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Self-citationThe Hair Follicle as a Dynamic Miniorgan
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Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO
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Cited by
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
Bonilla, X., Parmentier, L., King, B., Bezrukov, F., Kaya, G., Zoete, V., Seplyarskiy, V. B., Sharpe, H. J., McKee, T., Letourneau, A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3525 · Cited by 490
Metadata
- Authors
- Sweeney, R. T., McClary, A. C., Myers, B. R., Biscocho, J., Neahring, L., Kwei, K. A., Qu, K., Gong, X., Ng, T., Jones, C. D., Varma, S., Odegaard, J. I., Sugiyama, T., Koyota, S., Rubin, B. P., Troxell, M. L., Pelham, R. J., Zehnder, J. L., Beachy, P. A., Pollack, J. R., & West, R. B.
- Venue
- Nature Genetics
- Published
- 2014-05-25
- Volume
- 46
- Issue
- 7
- Pages
- 722-725
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2041653784
- Cited by
- 366
- References
- 33
- FWCI
- 32.63
- Type
- journal article
- Language
- en
- Open access
- green
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- Sweeney, R. T., McClary, A. C., Myers, B. R., Biscocho, J., Neahring, L., Kwei, K. A., Qu, K., Gong, X., Ng, T., Jones, C. D., Varma, S., Odegaard, J. I., Sugiyama, T., Koyota, S., Rubin, B. P., Troxell, M. L., Pelham, R. J., Zehnder, J. L., Beachy, P. A., . . . West, R. B. (2014). Identification of recurrent SMO and BRAF mutations in ameloblastomas. Nature Genetics. https://doi.org/10.1038/ng.2986
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
