On Feb. 5, 2020, an international team announced that it had completed the most comprehensive study of whole cancer genomes to date, significantly improving our fundamental understanding of cancer and indicating new directions for developing diagnostics and treatments. The discoveries, published in 23 papers in Nature and its affiliated journals, are a big step toward a complete map of all major cancer-causing mutations in the genome.

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Project (PCAWG, or the Pan-Cancer Project), a collaboration involving more than 1,300 scientists and clinicians from 37 countries, analyzed more than 2,600 whole genomes of 38 different tumor types — the largest publicly available whole-genome dataset in the cancer genomics field.

Using the data, 16 working groups examined multiple aspects of cancer development, causation, progression, and classification, confirming previous findings and generating new knowledge about cancer biology, including identifying a large diversity of molecular processes that generate cancer-causing mutations. The Pan-Cancer Project also improved and developed new methods for analyzing cancer genomes.

Fifty-two members of the Broad Institute of MIT and Harvard contributed to this research throughout the six-year long project.

Previous cancer genome studies focused on the 1 percent of the genome that codes for proteins, known as the exome. The Pan-Cancer Project explored the remaining 99 per cent of the genome, which includes regions that regulate the activity of genes.