Researchers discover new mutational phenomenon chromothripsis in cancer

Researchers discover new mutational phenomenon chromothripsis in cancer

Researchers at Harvard Medical School and EMBL-EBI have carried out the largest analysis across cancer types of the newly discovered mutational phenomenon chromothripsis. This study is the largest of its kind to date, containing whole-genome sequencing (WGS) data from over 2600 tumors spanning 38 different types of cancer. Chromothripsis Chromothripsis, or 'chromosome shattering', is a mutational process in which large stretches of a chromosome undergo massive rearrangements in a single catastrophic event. The chromosomal regions fragment into smaller pieces, rearrange, and rejoin, leading to a new genome configuration. Fully understanding how these alterations drive cancer genome evolution, and what molecular mechanisms are involved in their generation, are important steps towards understanding cancer genome evolution. This research was published in Nature Genetics as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project, a global effort involving the international collaboration of over 1300 scientists. In this study, the researchers showed that chromothripsis events are much more common across many types of cancer than previously thought. They could also directly link chromothripsis to common hallmarks of the cancer genome, including oncogene amplification (an increase in the number of copies of a gene that can cause cancer), and the loss of tumour suppressors (genes that regulate cell growth and division). Chromothripsis prevalence in cancer We integrated WGS data from over 2600 tumors spanning more than 30 cancer types. From this we discovered that chromothripsis events and other types of complex genome rearrangements are pervasive across human cancers, with frequencies greater than 50% of tumors in some cancer types." Isidro Cortés-Ciriano, Group Leader at EMBL-EBI and a former postdoctoral researcher at Harvard Medical School Using WGS datasets gave the researchers an enhanced view of chromothripsis events in the cancer genome. Previous studies looking at the role of chromothripsis in cancer and congenital diseases often used low-resolution array-based technologies. Here the researchers were able to show that chromothripsis events are much more prevalent in cancer than previously estimated. They also characterized the patterns of massive genome alterations across cancer types, and studied the DNA repair mechanisms involved in their generation. Related Stories



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