Redrawing the map of cancer genome research

Cancer’s genetic causes are more diverse than previous scientific studies have indicated – a conclusion reached by researchers from ETH Zurich and University Hospital Zurich. Through their participation in an international research collaboration, they helped compile the most comprehensive catalogue to date of gene alterations associated with cancer. Their work was based on the analysis of whole cancer genomes.

Never before has there been such a large-​scale study of the genetic causes of cancer: over 1,300 researchers from 37 countries and more than 70 research institutes joined forces in the Pan-​Cancer Analysis of Whole Genomes Project (PCAWG), or Pan-​Cancer Project for short, to explore exactly how the human genome triggers the development of cancer. The project focused on alterations in the genome that are implicated in cancer. Genomes are biological storage media that contain the entirety of a cell’s genetic information. In the Pan-​Cancer Project, the researchers analysed more than 2,600 whole genomes of 38 types of tumours, mapping nearly every cancer genome that was accessible at the time the project was launched.

A more complete picture of the cancer genome

The results of this international research collaboration were published in 23 scientific articles in the prestigious magazine Nature and its affiliated journals. One primary finding is that, while the cancer genome is finite and knowable, it is also enormously complicated. Tumour types can be identified accurately according to the patterns of genetic alterations seen throughout the genome. Whereas previous studies focused on just roughly 1 percent of the genome, the Pan-​Cancer Project explored the remaining 99 percent in considerably greater detail, including key regions that control switching genes on and off and so can trigger mutations that cause cancer. The entire endeavour can thus be described as redrawing the map of cancer genome research.

Gunnar Rätsch, Photo: ETH Zurich / Giulia Marthaler

“In principle, we have put the various pieces of the puzzle together to form a more complete picture. Now we can read almost the whole cancer genome, even if there is still quite a way to go before we understand all the individual parts,” says Gunnar Rätsch, Professor of Biomedical Informatics at ETH Zurich and University Hospital Zurich.

As part of the Pan-​Cancer Project, he led a working group alongside Professor Angela Brooks from the University of California, Santa Cruz, and Professor Alvis Brazma from the European Bioinformatics Institute (EMBL-​EBI). Their group looked into how alterations in RNA genetic information can impact the emergence of cancer. In a paper published in Nature, they have now presented the most comprehensive catalogue of cancer-​specific RNA alterations to date.

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