Article
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Nature genetics - 11 Dec 2011
Quesada Víctor, Conde Laura, Villamor Neus, Ordóñez Gonzalo R, Jares Pedro, Bassaganyas Laia, Ramsay Andrew J, Beà Sílvia, Pinyol Magda, Martínez-Trillos Alejandra, López-Guerra Mónica, Colomer Dolors, Navarro Alba, Baumann Tycho, Aymerich Marta, Rozman María, Delgado Julio, Giné Eva, Hernández Jesús M, González-Díaz Marcos, Puente Diana A, Velasco Gloria, Freije José M P, Tubío José M C, Royo Romina, Gelpí Josep L, Orozco Modesto, Pisano David G, Zamora Jorge, Vázquez Miguel, Valencia Alfonso, Himmelbauer Heinz, Bayés Mónica, Heath Simon, Gut Marta, Gut Ivo, Estivill Xavier, López-Guillermo Armando, Puente Xose S, Campo Elías, López-Otín Carlos
Abstract excerpt
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...
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