Article
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
Nature genetics - 1 May 2013
Ramsay Andrew J, Quesada Víctor, Foronda Miguel, Conde Laura, Martínez-Trillos Alejandra, Villamor Neus, Rodríguez David, Kwarciak Agnieszka, Garabaya Cecilia, Gallardo Mercedes, López-Guerra Mónica, López-Guillermo Armando, Puente Xose S, Blasco María A, Campo Elías, López-Otín Carlos
Abstract excerpt
Chronic lymphocytic leukemia (CLL) is the most frequent leukemia in adults. We have analyzed exome sequencing data from 127 individuals with CLL and Sanger sequencing data from 214 additional affected individuals, identifying recurrent somatic mutations in POT1 (encoding protection of telomeres 1) in 3.5% of the cases, with the frequency reaching 9% when only individuals without IGHV@ mutations were considered....
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