Mutations in the dark region of the genome cause leukaemia

A study published in Nature on 22 July 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) and it most important finding 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.

The study has been conducted by researchers Carlos López-Otín, of the University of Oviedo, and Elías Campo, from 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, including Núria López Bigas, ICREA researcher and Head of the Biomedical Genomics Group of GRIB (IMIM-UPF), Carlota Rubio and David Tamborero, researchers of her team.

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 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 Lymphatic 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) (

Pub ref: Puente XS, Beà S, Valdés-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, Munar M, Rubio-Pérez C, Jares P, Aymerich M, Baumann T, Beekman R, Belver L, Carrio A, Castellano G, Clot G, Colado E, Colomer D, Costa D, Delgado J, Enjuanes A, Estivill X, Ferrando AA, Gelpí JL, González B, González S, González M, Gut M, Hernández-Rivas JM, López-Guerra M, Martín-García D, Navarro A, Nicolás P, Orozco M, Payer ÁR, Pinyol M, Pisano DG, Puente DA, Queirós AC, Quesada V, Romeo-Casabona CM, Royo C, Royo R, Rozman M, Russiñol N, Salaverría I, Stamatopoulos K, Stunnenberg HG, Tamborero D, Terol MJ, Valencia A, López-Bigas N, Torrents D, Gut I, López-Guillermo A, López-Otín C, Campo E. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature, 2015. PMID: 26200345

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