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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., Author
Conde, L., Author
Villamor, N., Author
Ordonez, G. R., Author
Jares, P., Author
Bassaganyas, L., Author
Ramsay, A. J., Author
Bea, S., Author
Pinyol, M., Author
Martinez-Trillos, A., Author
Lopez-Guerra, M., Author
Colomer, D., Author
Navarro, A., Author
Baumann, T., Author
Aymerich, M., Author
Rozman, M., Author
Delgado, J., Author
Gine, E., Author
Hernandez, J. M., Author
Gonzalez-Diaz, M., Author
Puente, D. A., AuthorVelasco, G., AuthorFreije, J. M., AuthorTubio, J. M., AuthorRoyo, R., AuthorGelpi, J. L., AuthorOrozco, M., AuthorPisano, D. G., AuthorZamora, J., AuthorVazquez, M., AuthorValencia, A., AuthorHimmelbauer, H.1, Author              Bayes, M., AuthorHeath, S., AuthorGut, M., AuthorGut, I., AuthorEstivill, X., AuthorLopez-Guillermo, A., AuthorPuente, X. S., AuthorCampo, E., AuthorLopez-Otin, C., Author more..
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1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: 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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 Dates: 2012
 Publication Status: Published in print
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Title: Nature Genetics
Source Genre: Journal
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Pages: - Volume / Issue: 44 (1) Sequence Number: - Start / End Page: 47 - 52 Identifier: ISSN: 1546-1718 (Electronic) 1061-4036 (Linking)