CEXS-UPF: Mutations in the dark region of the genome cause leukaemia

CEXS-UPF: Mutations in the dark region of the genome cause leukaemia

News from CEXS-UPF

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.

The study, published in Nature on 22 July, was 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.

More information:

Xose S. Puente, "Non-coding recurrent mutations in chronic lymphocytic leukaemia", Nature, 22 July 2015, doi:10.1038/nature14666