Authors
Xose S Puente, Magda Pinyol, Víctor Quesada, Laura Conde, Gonzalo R Ordóñez, Neus Villamor, Georgia Escaramis, Pedro Jares, Sílvia Beà, Marcos González-Díaz, Laia Bassaganyas, Tycho Baumann, Manel Juan, Mónica López-Guerra, Dolors Colomer, José MC Tubío, Cristina López, Alba Navarro, Cristian Tornador, Marta Aymerich, María Rozman, Jesús M Hernández, Diana A Puente, José MP Freije, Gloria Velasco, Ana Gutiérrez-Fernández, Dolors Costa, Anna Carrió, Sara Guijarro, Anna Enjuanes, Lluís Hernández, Jordi Yagüe, Pilar Nicolás, Carlos M Romeo-Casabona, Heinz Himmelbauer, Ester Castillo, Juliane C Dohm, Silvia de Sanjosé, Miguel A Piris, Enrique De Alava, Jesús San Miguel, Romina Royo, Josep L Gelpí, David Torrents, Modesto Orozco, David G Pisano, Alfonso Valencia, Roderic Guigó, Mónica Bayés, Simon Heath, Marta Gut, Peter Klatt, John Marshall, Keiran Raine, Lucy A Stebbings, P Andrew Futreal, Michael R Stratton, Peter J Campbell, Ivo Gut, Armando López-Guillermo, Xavier Estivill, Emili Montserrat, Carlos López-Otín, Elías Campo
Publication date
2011/7/7
Journal
Nature
Volume
475
Issue
7354
Pages
101-105
Publisher
Nature Publishing Group UK
Description
Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution,. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes,. The molecular changes leading to the pathogenesis of the disease are still poorly understood. Here we performed whole-genome sequencing of four cases of CLL and identified 46 somatic mutations that potentially affect gene function. Further analysis of these mutations in 363 patients with CLL identified four genes that are recurrently mutated: notch 1 (NOTCH1), exportin 1 (XPO1), myeloid differentiation primary response gene 88 (MYD88) and kelch-like 6 (KLHL6). Mutations in MYD88 and KLHL6 are predominant in cases of CLL with mutated …
Total citations
Scholar articles
XS Puente, M Pinyol, V Quesada, L Conde… - Nature, 2011