Editorial in Nature:
This week, Nature is publishing a suite of papers that sheds new light on the genetic causes of cancer. The results show how far our understanding of cancer has come — and how far we still have to go. The Pan-Cancer Analysis of Whole Genomes Consortium brought together researchers with nearly 750 affiliations across 4 continents. Between them, they sequenced full genomes from more than 2,600 samples representing 38 different types of cancer. The work is summarized in a News & Views article in this issue. The project is remarkable in both scope and complexity, and, partly because of this, faced challenges at every step; from acquiring samples to protecting patient privacy while putting terabytes of data into the hands of researchers.
Thanks to these efforts — and previous full-genome sequences — scientists now have an unprecedented view of the genetic changes that can contribute to cancer, and a clearer idea of where gaps in knowledge remain. Altogether, the team pinpointed 705 mutations that occurred repeatedly in the cancer genomes, suggesting that they are important for tumour growth. Of these, about 100 fell outside the protein-coding regions of the genome, but more such mutations might be uncovered with improvements in computational techniques for analysing non-coding regions. Overall, the authors found that cancer genomes contain an average of four to five mutations that drive tumour growth. In 5% of cases, however, they found no such mutations. Cancer genomes have been sequenced for more than a decade, but now researchers and the funders who support them must tackle the next challenge. The goal has always been to improve the lives of those affected by cancer, and the reams of data amassed by sequencing projects have helped. They are used by researchers to find new drug targets, and to generate new markers that can be used to match patients with the treatment most likely to help.
But most of the data so far have been limited in one crucial respect: clinical details of the sample donors are often missing.