Mutations in the dark region of the genome cause leukaemia
Mutations in the dark region of the genome cause leukaemia
Spanish researchers have decoded the genome of more than five hundred patients with leukaemia and have identified recurrent mutations in non-coding regions of the genome, which provides new clues to the development of cancer. This study is the first to complete the analysis of five hundred genomes within the International Cancer Genome Consortium (ICGC). The Spanish Consortium is made up of more than a dozen institutions, including the Centre for Genomic Regulation (CRG), a UPF-affiliated centre in which UPF participates.
The most important finding of the study is the identification of mutations in areas of the genome that do not code for proteins whose functional significance is still very little known. These regions represent 98% of our genome, but they are so little known that they are not usually analysed in patients. This study has enabled defining sixty genes whose mutations cause tumour development.
A study published in Nature on 22 July, conducted by researchers Carlos López-Otín, of the University of Oviedo, and Elías Campo, from Hospital Clinic, the IDIBAPS and the University of Barcelona. They coordinated a team of over sixty researchers working at centres belonging to the Spanish Chronic Lymphatic Leukaemia Genome Consortium.
Among the authors of the study are Núria López Bigas, ICREA researcher at the Department of Experimental and Health Sciences (CEXS) at UPF and head of the Biomedical Genomics research group together with Carlota Rubio and David Tamborero, researchers of the team.
Landmark research in our country
This study is a milestone in research in our country, as the genomes of normal and tumour cells of over five hundred patients with one of the most common tumours, chronic lymphocytic leukaemia, have been sequenced. The work of the Spanish researchers published today in Nature confirms the utility of genome sequencing to understand the genetic causes of cancer, identify new mechanisms underlying its development and defining new therapeutic targets for treatment.
The Spanish Chronic Ly mphatic Leukaemia Genome Consortium has received funding from the Ministry of Economy and Competitiveness through the Carlos III Health Institute, and its work has taken place within the framework of the International Cancer Genome Consortium (ICGC) (www.icgc.org).
Reference work:
Xose S. Puente, Silvia Beà, Rafael Valdés-Mas, Neus Villamor, Jesús Gutiérrez-Abril, José I. Martín-Subero, Marta Munar, Carlota Rubio-Pérez, Pedro Jares, Marta Aymerich, Tycho Baumann, Renée Beekman, Laura Belver, Anna Carrio, Giancarlo Castellano, Guillem Clot,Enrique Colado, Dolors Colomer, Dolors Costa, Julio Delgado, Anna Enjuanes, Xavier Estivill, Adolfo A. Ferrando, Josep L. Gelpí, Blanca González, Santiago González, Marcos González, Marta Gut, Jesús M. Hernández-Rivas, Mónica López-Guerra, David Martín-García, Alba Navarro, Pilar Nicolás, Modesto Orozco, Ángel R. Payer, Magda Pinyol, David G. Pisano, Diana A. Puente, Ana C. Queirós, Víctor Quesada, Carlos M. Romeo-Casabona,Cristina Royo, Romina Royo, María Rozman, Nuria Russiñol, Itziar Salaverría, Kostas Stamatopoulos, Hendrik G. Stunnenberg, David Tamborero,María J. Terol, Alfonso Valencia, Nuria López-Bigas, David Torrents, Ivo Gut, Armando López-Guillermo, Carlos López-Otín & Elías Campo, (2015), " Non-coding recurrent mutations in chronic lymphocytic leukaemia", Nature,22 July, doi:10.1038/nature14666 .
