Around 40% of people will be diagnosed with cancer at some point during their lifetime. As a disease that can occur in essentially any part of the body, cancer is something that affects people across the world. Therefore, researchers worldwide are working to better understand the disease.
Cancer occurs when cells are struck by mutations in their genomes which make them grow faster than they should. This makes it a disease of the genome.
The Pan-Cancer Project
The Pan-Cancer project has involved more than 1300 scientists and clinicians from 37 countries, and the analysis of more than 2600 genomes to provide new insights into the development of cancer, one of the most deadly diseases to humankind. The survey contained in total, 38 different cancer types, creating a huge resource of primary cancer genomes.
With this dataset Pan-Cancer significantly improves our fundamental understanding of cancer: It is the most comprehensive study of whole cancer genomes to date. It is also signposting new directions for the diagnosis and treatment of cancer.
New insights into cancer
Previous studies primarily focused on the 1% of the genome that codes for proteins. The Pan-Cancer Project explored in considerably greater detail the remaining 99% of the genome, including key regions that control switching genes on and off. In doing so, the project extended and advanced methods for analysing cancer genomes while also delivering important new knowledge on cancer biology and confirming important earlier findings
Some of the key discoveries of the Pan Cancer project are:
The cancer genome is finite and knowable, but enormously complicated. By combining sequencing of the whole cancer genome with a suite of analysis tools, researchers can characterise every genetic change found in a cancer, all the processes that have generated those mutations, and even the order of key events during a cancer’s life history.
Scientists are close to cataloguing all of the biological pathways involved in cancer and having a fuller picture of their actions in the genome. At least one causal mutation was found in virtually all of the cancers analysed and the processes that generate mutations were found to be hugely diverse – from changes in single DNA letters to the reorganisation of whole chromosomes. Multiple novel regions of the genome controlling how genes switch on and off were identified as targets of cancer-causing mutations.
Through a method of ‘carbon dating’, Pan-Cancer researchers – involving Dr. Moritz Gerstung and his group from EMBL’s European Bioinformatics Institute (EMBL-EBI) in Hinxton, UK – discovered that it is possible to identify mutations in the genome that occurred years, or sometimes even decades, before the tumour appears. Theoretically, this opens a window of opportunity for early cancer detection.
Tumour types can be accurately identified by examining the patterns of genetic changes seen throughout the genome. This has the potential to aid diagnosis of a patient’s cancer where its type could not be determined by conventional clinical tests. Knowledge of the exact tumour type could also help to tailor treatments for specific patients.
A new database for the community
On top of the discoveries that have already been made, the Pan-Cancer project equips scientists with a comprehensive resource for cancer genomics research, including the raw genome sequencing data, software for cancer genome analysis, and multiple interactive websites exploring various aspects of the Pan-Cancer project data.
The Pan-Cancer Project extended and advanced methods for analysing cancer genomes which included cloud computing – computational algorithms that could run everywhere in the world, irrespective of where and how the data was stored, and in exactly the same way.
EMBL and the Pan-Cancer Project
EMBL had a very important role in the Pan-Cancer project. Jan Korbel, working at EMBL Heidelberg was the initiator and one of the leaders of the project. Large amounts of data were stored at EMBL-EBI in Hinxton, UK, and also the analysis of data was performed at both sites. With experts from different fields working at EMBL the organisation also contributed software and scientific expertise for different parts of the analysis in this project.
As an intergovernmental organisation EMBL also acted as a coordinator for the participating national institutes from within the member state countries but also from other parts of the world.