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The International Cancer Genome Consortium (ICGC) has published a study in the journal Nature Communications that lays the groundwork for a new era of cancer genomics research. 83 researchers from 78 different research centers participated in the project, jointly led by the Barcelona-based National Center for Genomic Analysis (CNAG-CRG) and the German Cancer Research Center (DKFZ). The study aimed to establish reliable standards for obtaining precise results in detecting somatic mutations. These mutations are spontaneous genetic alterations acquired by a cell that can be passed on to its descendants over the course of cell division and tumor growth, which is why they are a hallmark of cancer genomes.

Studying these mutations has revealed the different genome-sequencing methodologies used at the participating ICGC centers and has uncovered significant discrepancies in the number and type of genetic mutations detected in analyzing the same cancer genome. Of the more than 1,000 somatic mutations from a single DNA sample confirmed in the cancer genome analyzed, only 40% were unanimously identified by all centers.  For small insertions or deletions in the DNA sequence, the percentage drops to 0.3% (only one in every 337 mutations were identified by all centers).

“The findings of our study have far-reaching implications for cancer genome analysis. We believe this data must be available to the scientific community as a whole and to all professionals involved in diagnosing cancer, to help perfect their systems and generate more standardized, consistent results,” explains Ivo Gut, first author of the paper and director of the CNAG-CRG in Barcelona. This study has allowed the consortium to establish a ‘gold set’ of verified mutations that will allow the ICGC community to improve how somatic mutations are identified, reducing the number of false negatives and false positives.

The ICGC is an international consortium working to generate a comprehensive description of genomic, transcriptomic and epigenomic changes in 50 types and subtypes of tumors. This study focused on two types of cancer: chronic lymphocytic leukemia (CLL) and medulloblastoma (a malign brain tumor found in the cerebellum of children). The BioRegion’s participation in the ICGC falls under the framework of the CLL study conducted by a consortium led by Dr. Elías Campo of Hospital Clinic Barcelona and Dr. Carlos López-Otín of the University of Oviedo, along with other national partners including the Barcelona Supercomputing Center, the Catalan Institute of Oncology and the CNAG-CRG.

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