Cancer is thought to develop through the gradual accumulation of mutations across the genome. But a small percentage of cancers may instead come about through a one-off onslaught of tens to hundreds of rearrangements to a single chromosome.
Peter Campbell at the Wellcome Trust Sanger Institute in Cambridge, UK, and his colleagues analysed the genomes of ten patients with leukaemia. One patient had several distinct patterns of genomic rearrangement, such as a concentration of mutations in one section of one chromosome, and gene copy numbers — often raised in cancer — that fluctuated between just one and two. Further analysis of more than 3,000 other patient samples revealed similar patterns in 2–3% of people with cancer.
From modelling work, the authors conclude that such patterns are consistent with a chromosome shattering into tens to hundreds of pieces, many of which are then pieced together by the cell's DNA-repair machinery, leaving mistakes. Such a catastrophe could lead to many cancer-causing mutations.
Rights and permissions
About this article
Cite this article
Cancer genetics: One catastrophe, many mutations. Nature 469, 135 (2011). https://doi.org/10.1038/469135a
Published:
Issue Date:
DOI: https://doi.org/10.1038/469135a
