Researchers at Harvard Medical School and EMBL-EBI have carries out the largest analysis across cancer types of the newly discovered mutational phenomenon chromothripsis, or “chromosome shattering.”
This study is the largest of its kind to date, containing whole-genome sequencing (WGS) data from over 2,600 tumors spanning 38 different types of cancer.
Chromosome can rearrange under certain circumstances, which means the chromosomal regions fragment into smaller pieces, and rejoin in another order, so that a new genome configuration appears.
However, if the process goes wrong, then massive rearrangements may happen, leading to possible cancer genome evolution. This is also one of the reasons why scientists want to have a fully understanding in the rearrangement process.
The research is a part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project, a global effort involving the international collaboration of over 1,300 scientists.
Chromothripsis prevalence in cancer
The researchers found that chromothripsis events and other types of complex genome rearrangements are pervasive across human cancers. The frequencies are greater than 50% of tumors in some cancer types.
They also characterized the patterns of massive genome alterations across cancer types and studies the DNA repair mechanisms involved in their generation. This means that there is a strong link between chromothripsis and cancer.
Chromothripsis and cancer prognosis
The discoveries in the study help people understand how cancer arises and evolves, as well as the patterns of alterations in the DNA of human tumors. Some of the alterations may be developed into new clinical methods in the coming years.
This is exciting news for diagnosis of cancer. Chromothripsis has been associated with poor prognosis for cancer patients, but further studies may help doctors in cancer diagnosis in the future.