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High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
Open accessAbstract
To understand the genetic mechanisms driving variant and IGHV4-34–expressing hairy-cell leukemias, we performed whole-exome sequencing of leukemia samples from ten affected individuals, including six with matched normal samples. We identified activating mutations in the MAP2K1 gene (encoding MEK1) in 5 of these 10 samples and in 10 of 21 samples in a validation set (overall frequency of 15/31), suggesting potential new strategies for treating individuals with these diseases.
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Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations
Flaherty, K. T., Infante, J. R., Daud, A., Gonzalez, R., Kefford, R. F., Sosman, J., Hamid, O., Schuchter, L., Cebon, J., Ibrahim, N., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1210093 · Cited by 2,810
Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing
Imielinski, M., Berger, A. H., Hammerman, P. S., Hernandez, B., Pugh, T. J., Hodis, E., Cho, J., Suh, J., Capelletti, M., Sivachenko, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.08.029 · Cited by 1,789
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Chakraborty, R., Hampton, O. A., Shen, X., Simko, S. J., Shih, A., Abhyankar, H., Lim, K. P. H., Covington, K. R., Trevino, L., Dewal, N., et al. (2014) · Blood · doi:10.1182/blood-2014-05-577825 · Cited by 431
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz-Gay, M., Wu, Y., Barnes, M., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 365
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Garces, S., Medeiros, L. J., Patel, K. P., Li, S., Pina-Oviedo, S., Li, J., Garces, J. C., Khoury, J. D., & Yin, C. C. (2017) · Modern Pathology · doi:10.1038/modpathol.2017.55 · Cited by 299
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Metadata
- Authors
- Waterfall, J. J., Arons, E., Walker, R. L., Pineda, M., Roth, L., Killian, J. K., Abaan, O. D., Davis, S. R., Kreitman, R. J., & Meltzer, P. S.
- Venue
- Nature Genetics
- Published
- 2013-11-17
- Volume
- 46
- Issue
- 1
- Pages
- 8-10
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2040760628
- Cited by
- 276
- References
- 2
- FWCI
- 9.61
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias. https://app.cochat.ai/papers/10.1038/ng.2828
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- Waterfall, J. J., Arons, E., Walker, R. L., Pineda, M., Roth, L., Killian, J. K., Abaan, O. D., Davis, S. R., Kreitman, R. J., & Meltzer, P. S. (2014). High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias. Nature Genetics. https://doi.org/10.1038/ng.2828
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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.
