The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
Open accessAbstract
We performed exome sequencing to detect somatic mutations in protein-coding regions in seven melanoma cell lines and donor-matched germline cells. All melanoma samples had high numbers of somatic mutations, which showed the hallmark of UV-induced DNA repair. Such a hallmark was absent in tumor sample–specific mutations in two metastases derived from the same individual. Two melanomas with non-canonical BRAF mutations harbored gain-of-function MAP2K1 and MAP2K2 (MEK1 and MEK2, respectively) mutations, resulting in constitutive ERK phosphorylation and higher resistance to MEK inhibitors. Screening a larger cohort of individuals with melanoma revealed the presence of recurring somatic MAP2K1 and MAP2K2 mutations, which occurred at an overall frequency of 8%. Furthermore, missense and nonsense somatic mutations were frequently found in three candidate melanoma genes, FAT4, LRP1B and DSC1.
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Recurring mutations found by sequencing an acute myeloid leukemia genome
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A landscape of driver mutations in melanoma
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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
ERK/MAPK signalling pathway and tumorigenesis (Review)
Guo, Y., Pan, W., Liu, S., Shen, Z., Xu, Y., & Hu, L. (2020) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2020.8454 · Cited by 1,475
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer, M., Kong, Y., Ha, B. H., Evans, P., Bacchiocchi, A., McCusker, J. P., Cheng, E., Davis, M. J., Goh, G., Choi, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2359 · Cited by 1,191
Metadata
- Authors
- Nikolaev, S. I., Rimoldi, D., Iseli, C., Valsesia, A., Robyr, D., Gehrig, C., Harshman, K., Guipponi, M., Bukach, O., Zoete, V., Michielin, O., Muehlethaler, K., Speiser, D., Beckmann, J. S., Xenarios, I., Halazonetis, T. D., Jongeneel, C. V., Stevenson, B. J., & Antonarakis, S. E.
- Venue
- Nature Genetics
- Published
- 2011-12-25
- Volume
- 44
- Issue
- 2
- Pages
- 133-139
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2019564564
- Cited by
- 409
- References
- 11
- FWCI
- 16.46
- Type
- journal article
- Language
- en
- Open access
- green
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- Nikolaev, S. I., Rimoldi, D., Iseli, C., Valsesia, A., Robyr, D., Gehrig, C., Harshman, K., Guipponi, M., Bukach, O., Zoete, V., Michielin, O., Muehlethaler, K., Speiser, D., Beckmann, J. S., Xenarios, I., Halazonetis, T. D., Jongeneel, C. V., Stevenson, B. J., & Antonarakis, S. E. (2012). Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nature Genetics. https://doi.org/10.1038/ng.1026
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