An “unprecedented” study has revealed the most comprehensive map of cancer genomes to date, discovering causes of previously unexplained cancers and pin-pointing cancer-causing events.
The research, carried out by an international team, is said to significantly improve our fundamental understanding of cancer, suggesting new directions for its diagnosis and treatment.
Involving more than 1,300 scientists and clinicians from 37 countries, the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes - also being dubbed the Pan-Cancer project) analysed more than 2,600 genomes of 38 different tumour types, creating a huge resource of primary cancer genomes.
The analysed genomes were then used in 16 working groups studying multiple aspects of cancer’s development, causation, progression, and classification.
Until now, previous studies focused on the 1% of the genome that codes for proteins.
However this time around, t identify somatic mutations, the extensive team analysed all samples using a uniform set of algorithms for alignment, variant calling and quality control - testing the remaining unexplored 99% of the genome, including key regions that control switching genes on and off.
‘If you know which mutations have caused cancer, the so-called driver mutations, you will be able to better tailor a treatment with the most suitable drugs or design new drugs against the cancer. Precision medicine is completely dependent on the mapping of driver mutations in each cancer, in relation to diagnosis, prognosis and improved treatment," Co-author Jakob Skou Pedersen, professor at Bioinformatics Research Centre and Department of Clinical Medicine, Aarhus University, told the media.
Cancer is the second most-frequent cause of death worldwide, killing more than eight million people every year; the incidence of cancer is expected to increase by more than 50% over the coming decades.