Cancer is usually attributed to a slow accumulation of genomic changes, but a few cancers result instead from a single catastrophic event that causes massive reshuffling of the genome. Researchers have discovered these major changes, called chromothripsis, in a type of medulloblastoma — a common childhood brain cancer — and have linked the disease to mutations in the tumour-suppressor gene TP53, which encodes the protein p53.

Jan Korbel at the European Molecular Biology Laboratory in Heidelberg, Germany, and his colleagues sequenced the genome of one patient with medulloblastoma and mutated TP53, and found many large genomic rearrangements. By analysing the genomes of 98 other patients with the brain cancer, they uncovered a strong association between mutant TP53 and chromothripsis in one subtype of the cancer.

The authors propose that the protein p53 is involved in either initiating this massive genomic storm or keeping the cells alive afterwards.

Cell 148, 59–71 (2012)