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Non-coding recurrent mutations in chronic lymphocytic leukaemia. 2015
Xose S Puente, and
Silvia Beà, and
Rafael Valdés-Mas, and
Neus Villamor, and
Jesús Gutiérrez-Abril, and
José I Martín-Subero, and
Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
Tycho Baumann, and
Renée Beekman, and
Laura Belver, and
Anna Carrio, and
Giancarlo Castellano, and
Guillem Clot, and
Enrique Colado, and
Dolors Colomer, and
Dolors Costa, and
Julio Delgado, and
Anna Enjuanes, and
Xavier Estivill, and
Adolfo A Ferrando, and
Josep L Gelpí, and
Blanca González, and
Santiago González, and
Marcos González, and
Marta Gut, and
Jesús M Hernández-Rivas, and
Mónica López-Guerra, and
David Martín-García, and
Alba Navarro, and
Pilar Nicolás, and
Modesto Orozco, and
Ángel R Payer, and
Magda Pinyol, and
David G Pisano, and
Diana A Puente, and
Ana C Queirós, and
Víctor Quesada, and
Carlos M Romeo-Casabona, and
Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
Ivo Gut, and
Armando López-Guillermo, and
Carlos López-Otín, and
Elías Campo
Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11. We also identify novel recurrent mutations in non-coding regions, including the 3' region of NOTCH1, which cause aberrant splicing events, increase NOTCH1 activity and result in a more aggressive disease. In addition, mutations in an enhancer located on chromosome 9p13 result in reduced expression of the B-cell-specific transcription factor PAX5. The accumulative number of driver alterations (0 to ≥4) discriminated between patients with differences in clinical behaviour. This study provides an integrated portrait of the CLL genomic landscape, identifies new recurrent driver mutations of the disease, and suggests clinical interventions that may improve the management of this neoplasia.
Related Publications
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Silvia Beà, and
Rafael Valdés-Mas, and
Neus Villamor, and
Jesús Gutiérrez-Abril, and
José I Martín-Subero, and
Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
Tycho Baumann, and
Renée Beekman, and
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Giancarlo Castellano, and
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Dolors Colomer, and
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Adolfo A Ferrando, and
Josep L Gelpí, and
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Ivo Gut, and
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Silvia Beà, and
Rafael Valdés-Mas, and
Neus Villamor, and
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Jesús M Hernández-Rivas, and
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Santiago González, and
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Alfonso Valencia, and
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Hendrik G Stunnenberg, and
David Tamborero, and
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Víctor Quesada, and
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Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
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Armando López-Guillermo, and
Carlos López-Otín, and
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Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
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Renée Beekman, and
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Anna Carrio, and
Giancarlo Castellano, and
Guillem Clot, and
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Dolors Colomer, and
Dolors Costa, and
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Anna Enjuanes, and
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Josep L Gelpí, and
Blanca González, and
Santiago González, and
Marcos González, and
Marta Gut, and
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Mónica López-Guerra, and
David Martín-García, and
Alba Navarro, and
Pilar Nicolás, and
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Magda Pinyol, and
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Diana A Puente, and
Ana C Queirós, and
Víctor Quesada, and
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Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
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David Torrents, and
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Armando López-Guillermo, and
Carlos López-Otín, and
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Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
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Giancarlo Castellano, and
Guillem Clot, and
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Julio Delgado, and
Anna Enjuanes, and
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Adolfo A Ferrando, and
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Blanca González, and
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Jesús M Hernández-Rivas, and
Mónica López-Guerra, and
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Alba Navarro, and
Pilar Nicolás, and
Modesto Orozco, and
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David G Pisano, and
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Víctor Quesada, and
Carlos M Romeo-Casabona, and
Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
Ivo Gut, and
Armando López-Guillermo, and
Carlos López-Otín, and
Elías Campo
January 1987,
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Xose S Puente, and
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Neus Villamor, and
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Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
Tycho Baumann, and
Renée Beekman, and
Laura Belver, and
Anna Carrio, and
Giancarlo Castellano, and
Guillem Clot, and
Enrique Colado, and
Dolors Colomer, and
Dolors Costa, and
Julio Delgado, and
Anna Enjuanes, and
Xavier Estivill, and
Adolfo A Ferrando, and
Josep L Gelpí, and
Blanca González, and
Santiago González, and
Marcos González, and
Marta Gut, and
Jesús M Hernández-Rivas, and
Mónica López-Guerra, and
David Martín-García, and
Alba Navarro, and
Pilar Nicolás, and
Modesto Orozco, and
Ángel R Payer, and
Magda Pinyol, and
David G Pisano, and
Diana A Puente, and
Ana C Queirós, and
Víctor Quesada, and
Carlos M Romeo-Casabona, and
Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
Ivo Gut, and
Armando López-Guillermo, and
Carlos López-Otín, and
Elías Campo
November 2017,
British journal of haematology,
Xose S Puente, and
Silvia Beà, and
Rafael Valdés-Mas, and
Neus Villamor, and
Jesús Gutiérrez-Abril, and
José I Martín-Subero, and
Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
Tycho Baumann, and
Renée Beekman, and
Laura Belver, and
Anna Carrio, and
Giancarlo Castellano, and
Guillem Clot, and
Enrique Colado, and
Dolors Colomer, and
Dolors Costa, and
Julio Delgado, and
Anna Enjuanes, and
Xavier Estivill, and
Adolfo A Ferrando, and
Josep L Gelpí, and
Blanca González, and
Santiago González, and
Marcos González, and
Marta Gut, and
Jesús M Hernández-Rivas, and
Mónica López-Guerra, and
David Martín-García, and
Alba Navarro, and
Pilar Nicolás, and
Modesto Orozco, and
Ángel R Payer, and
Magda Pinyol, and
David G Pisano, and
Diana A Puente, and
Ana C Queirós, and
Víctor Quesada, and
Carlos M Romeo-Casabona, and
Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
Ivo Gut, and
Armando López-Guillermo, and
Carlos López-Otín, and
Elías Campo
September 2014,
Hematological oncology,
Xose S Puente, and
Silvia Beà, and
Rafael Valdés-Mas, and
Neus Villamor, and
Jesús Gutiérrez-Abril, and
José I Martín-Subero, and
Marta Munar, and
Carlota Rubio-Pérez, and
Pedro Jares, and
Marta Aymerich, and
Tycho Baumann, and
Renée Beekman, and
Laura Belver, and
Anna Carrio, and
Giancarlo Castellano, and
Guillem Clot, and
Enrique Colado, and
Dolors Colomer, and
Dolors Costa, and
Julio Delgado, and
Anna Enjuanes, and
Xavier Estivill, and
Adolfo A Ferrando, and
Josep L Gelpí, and
Blanca González, and
Santiago González, and
Marcos González, and
Marta Gut, and
Jesús M Hernández-Rivas, and
Mónica López-Guerra, and
David Martín-García, and
Alba Navarro, and
Pilar Nicolás, and
Modesto Orozco, and
Ángel R Payer, and
Magda Pinyol, and
David G Pisano, and
Diana A Puente, and
Ana C Queirós, and
Víctor Quesada, and
Carlos M Romeo-Casabona, and
Cristina Royo, and
Romina Royo, and
María Rozman, and
Nuria Russiñol, and
Itziar Salaverría, and
Kostas Stamatopoulos, and
Hendrik G Stunnenberg, and
David Tamborero, and
María J Terol, and
Alfonso Valencia, and
Nuria López-Bigas, and
David Torrents, and
Ivo Gut, and
Armando López-Guillermo, and
Carlos López-Otín, and
Elías Campo
February 2015,
Leukemia,
