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  Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

Quesada, V., Conde, L., Villamor, N., Ordonez, G. R., Jares, P., Bassaganyas, L., et al. (2012). Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nature Genetics, 44(1), 47-52. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22158541 http://www.nature.com/ng/journal/v44/n1/pdf/ng.1032.pdf.

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Quesada, V., Autor
Conde, L., Autor
Villamor, N., Autor
Ordonez, G. R., Autor
Jares, P., Autor
Bassaganyas, L., Autor
Ramsay, A. J., Autor
Bea, S., Autor
Pinyol, M., Autor
Martinez-Trillos, A., Autor
Lopez-Guerra, M., Autor
Colomer, D., Autor
Navarro, A., Autor
Baumann, T., Autor
Aymerich, M., Autor
Rozman, M., Autor
Delgado, J., Autor
Gine, E., Autor
Hernandez, J. M., Autor
Gonzalez-Diaz, M., Autor
Puente, D. A., AutorVelasco, G., AutorFreije, J. M., AutorTubio, J. M., AutorRoyo, R., AutorGelpi, J. L., AutorOrozco, M., AutorPisano, D. G., AutorZamora, J., AutorVazquez, M., AutorValencia, A., AutorHimmelbauer, H.1, Autor           Bayes, M., AutorHeath, S., AutorGut, M., AutorGut, I., AutorEstivill, X., AutorLopez-Guillermo, A., AutorPuente, X. S., AutorCampo, E., AutorLopez-Otin, C., Autor mehr..
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Zusammenfassung: Here we perform whole-exome sequencing of samples from 105 individuals with chronic lymphocytic leukemia (CLL), the most frequent leukemia in adults in Western countries. We found 1,246 somatic mutations potentially affecting gene function and identified 78 genes with predicted functional alterations in more than one tumor sample. Among these genes, SF3B1, encoding a subunit of the spliceosomal U2 small nuclear ribonucleoprotein (snRNP), is somatically mutated in 9.7% of affected individuals. Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival. This work provides the first comprehensive catalog of somatic mutations in CLL with relevant clinical correlates and defines a large set of new genes that may drive the development of this common form of leukemia. The results reinforce the idea that targeting several well-known genetic pathways, including mRNA splicing, could be useful in the treatment of CLL and other malignancies.

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 Datum: 2012
 Publikationsstatus: Erschienen
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Titel: Nature Genetics
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 44 (1) Artikelnummer: - Start- / Endseite: 47 - 52 Identifikator: ISSN: 1546-1718 (Electronic) 1061-4036 (Linking)