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Spanish researchers link cancer to failures in chromosome protection for the first time
Date:3/19/2013

A study published today in the journal Nature Genetics explores a new mechanism that may contribute to the development of several tumours, including Chronic Lymphocytic Leukaemia, a type of cancer that affects more than a thousand new patients in Spain each year.

This work, led by researchers Carlos Lpez-Otn, from the University Institute of Oncology at the University of Oviedo; Elas Campo, from the Hospital Clnic/University of Barcelona; and Mara Blasco, the Director of the Spanish National Cancer Research Centre (CNIO), represents a significant milestone for the Spanish Consortium in the study of the Chronic Lymphocytic Leukaemia Genome.

"Chronic Lymphocytic Leukaemia is the most frequent leukaemia in Western countries," says Lpez-Otn, adding that, "Once the most frequent genetic and epigenetic changes in its development have been decoded, it's necessary to discover the biochemical mechanisms altered by those changes, in order to be able to improve the diagnosis and treatment of this disease."

Thus, continuing the work from previous studies led by Campo and Lpez-Otn published in Nature and Nature Genetics over the past two years, the researchers concentrated on the mutations affecting POT1, one of the genes involved in the protection of the ends of chromosomes, the telomeres.

This is the first time that a gene with this function has appeared mutated in a human cancer. Blasco says: "We have been studying telomere biology for a long time, given that alterations in telomere maintenance are associated with cancer and ageing. Although the mechanisms used by tumour cells to alter their telomeres have been identified, POT1 mutations reveal yet another, previously unknown route."

Each chromosome has, at its extremes, in its telomeres, a protective hood made up of proteins, and POT1 is the staple that fixes it in place, joining it to the telomeric DN
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Contact: Nuria Noriega
comunicacion@cnio.es
Centro Nacional de Investigaciones Oncologicas (CNIO)
Source:Eurekalert

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