A study published in the journal Nature Genetics opens new pathways for cancer research through sequencing the exomes of more than one hundred patients and their respective tumours, using cutting-edge sequencing technology at the National Center for Genome Analysis (CNAG) located at the Barcelona Science Park. The research, directed by the UB professor Elías Campo, a researcher at Hospital Clínic-IDIBAPS, and the researcher Carlos López-Otín, from the University of Oviedo, drew on the expertise of 40 researchers from the Spanish Chronic Lymphocytic Leukemia (CLL) Genome Project, a contributing member of the International Cancer Genome Consortium (ICGC).

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“Chronic lymphatic leukaemia is the most frequent kind of leukaemia in developed countries, with more than 1000 new patients diagnosed each year in our country”, comments Elías Campo. “Our previous study provided the first clues about the mutations that cause the uncontrolled proliferation of B lymphocytes in these patients, but given the diverse mechanisms involved in tumour development, it is necessary to sequence the tumour genomes of many patients”.

Although it is known that cancer is a disease caused by the accumulation of gene damage in healthy cells, until now the identification of these changes was a slow and laborious process. Using new sequencing technologies, in this study the researchers have simplified this process by focusing on the exome, which is comprised by parts of the genes that hold the gene coding regions.

Following this approach, these scientists have been able to study the most relevant positions by sequencing only 2% of the 3,000 million nucleotides of a complete genome. The specific tumour mutations can be detected by comparing the exome sequence of tumour cells from each patient with the corresponding sequence from healthy cells from the same individual.

“This approach has allowed us to identify the most common mutations that occur during the development of this kind of leukaemia” adds López-Otín. “The analysis of more than 1000 mutated genes in the tumour cells of the 105 patients studied has revealed the participation of new biochemical pathways that may be highly relevant for the search for alternative treatments for this kind of leukaemia”, he concludes.

Campo and López-Otín comment that “the finding of recurrent mutations in the genome denominated SF3B1 is of special interest because this gene is involved in the maturation of RNA messengers, a crucial process in the cell cycle”.

Spanish Leukaemia Genome Consortium

Spanish Chronic Lymphocytic Leukaemia Genome Consortium (CLL Genome, www.cllgenome.es) is funded directly by 10 million euros from the Ministry of Science and Innovation, through the “Instituto de Salud Carlos III”, and forms part of the International Cancer Genome Consortium (ICGC, www.icgc.org). The ICGC was set up at the end of 2008, with the participation of 9 international research teams, among these the Spanish Chronic Lymphocytic Leukaemia Genome Consortium.

The Spanish Chronic Lymphocytic Leukemia Genome Consortium is made up of a dozen institutions: the Hospital Cliníc in Barcelona; the University Cancer Institute of the University of Oviedo; the University of Barcelona; August Pi i Sunye Biomedical Research Institute ; the Centre for Genomic Regulation in Barcelona; the Foundation Biomedical Research Institute of Bellvitge- the Catalan Institute of Oncology; the University Hospital and Cancer Investigation Centre in Salamanca; the Spanish National Cancer Centre; the University of Deusto; the University of Santiago de Compostela; the Barcelona Supercomputing Center and the Centro Nacional de Análisis Genómico.