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Cover image: Nik Spencer/Nature

Researchers from CNAG-CRG and IRB Barcelona contribute to the description of the most comprehensive map of cancer genomes

The international team of scientists of the ‘Pan-Cancer Analysis of Whole Genomes Project’ (PCAWG) today published 23 studies in the Nature journals, describing the most comprehensive map of cancer genomes from 38 types of tumours to date. Among the 1,300 researchers who have contributed to the project are scientists from the Institute for Research in Biomedicine (IRB Barcelona) and the Centro Nacional de Análisis Genómico (CNAG-CRG) in the Barcelona Science Park.The results are an important step for the development of personalised medicine to treat cancer.


The ‘Pan-Cancer Analysis of Whole Genomes Project’ (PCAWG) is an international consortium consisting of 1,300 scientists from 70 research centres across 37 different countries, which is why it is considered by some to be the “United Nations” of cancer genome sequencing. It is the world’s biggest cancer genome sequencing project to date.

Scientists previously looked for genes linked to the proliferation of cancer in the 1% of the human genome that codes for proteins. These studies are topical because the consortium of scientists have sequenced the remaining 99% of the genome, developing new methods to research the role of the ‘dark genome’ and finding new causes of cancer, new ways to prevent and diagnose it, as well as new treatments.

The 5,000 genomes from 2,658 donors (one sample from the cancer genome and another from the healthy base for each donor) generated more than 800 terabytes of information. The database will be a free resource for researchers, accelerating new discoveries such as new therapeutic targets for existing pharmaceuticals.

Spain’s contribution to the project involved sequencing 95 primary tumours of chronic lymphatic leukaemia in the Centro Nacional de Análisis Genómico (CNAG-CRG), based in PCB and part of the Centre for Genomic Regulation.

“These findings are key for the development of personalized medicine, once sequencing the genome of a cancer becomes commonplace in a clinical setting,” says Ivo Gut, director of the CNAG-CRG and chair of the working groups that make up the PCAWG. “In a not so distant future we will be able to precisely diagnose the type of tumour people have, predict its progression with more accuracy and choose the most effective treatment.

IRB Barcelona researchers, at the Barcelona Science Park, have contributed to the most comprehensive study of whole cancer genomes to date, significantly improving our fundamental understanding of cancer and signposting new directions for its diagnosis and treatment

“We have been involved in identifying the whole-genome panorama of cancer-causing mutations across more than 2,600 tumors.” Explains Abel González, Research Associate at the Biomedical Genomics Lab at IRB Barcelona. “As a result, for the first time, we have a complete view of how much different types of mutations in different genomic elements contribute to tumorigenesis. This panorama constitutes a blueprint to advance on the path towards a genomics-based precision cancer medicine,” he concludes.

► Bibliographic reference: Pan-Cancer Analysis of Whole Genomes [+] Nature. Volume 578 Issue 7793, 6 February 2020.

► More information on the CNAG-CRG [+] and IRB Barcelona [+] websites