Nat Genet: heavyweight! Scientists have successfully revealed the mystery of "chromosome fragmentation" in human cancer genome

February 13, 2020 / BIOON / -- recently, in a research report published in the international journal Nature Genetics, scientists from Harvard Medical School and the European Molecular Biology Laboratory discovered chromosomal fragmentation (chromothr IPS or chromosome) in cancer Shattering) phenomenon has been analyzed on the largest scale This study is the largest one of its kind so far It contains the whole genome sequencing data of 38 different cancer types involving more than 2600 tumors Photo source: Spencer Phill IPS / EMBL EBI Chromosome fragmentation is a mutation process, that is, in a single catastrophic event, a stained segment will undergo a large-scale rearrangement, and the region segment of chromosome will break into smaller segments and rearrange, connect and produce a new genome configuration; fully understand that these changes drive the evolution of cancer genome for researchers to reveal the occurrence of cancer And progress is crucial The researchers say that in many types of cancer, chromosome fragmentation is far more common than we think They can directly associate chromosome fragmentation with common markers of cancer genome, including the amplification of oncogenes (increasing the copy of oncogenes), the deletion of tumor suppressor genes (regulating cell growth and division), etc According to researcher Isidro CORT é s-ciriano, we integrate the whole genome sequencing data of more than 2600 tumors of more than 30 cancer types Based on this, we find that chromosome fragmentation and other types of complex genome rearrangement are very common in human cancer, and the frequency of some cancer types even exceeds 50% Using the whole genome sequencing database, researchers can understand the chromosome fragmentation events in cancer genome in depth In previous studies, researchers used low-resolution array based technology to reveal the key role of chromosome fragmentation in cancer and congenital diseases In this study, researchers also found that these chromosome fragmentation events may occur more frequently At the same time, they also analyzed the characteristics of a large number of genomic changes in a variety of cancer types, and studied the mechanisms involved in DNA repair Researcher Peter Park said that this study once again proved the power of large-scale whole genome sequencing, which may help more scientists to explore the complex characteristics of the puzzling genome fragmentation in cancer genome, and identify common characteristics in hundreds of cases Relevant research findings may help researchers better understand the mechanism of cancer occurrence and development and the evolution pattern of human tumor DNA, some of which have very important clinical significance, or help researchers develop new therapies for cancer Chromosome fragmentation may help shape tumor genomes and lead to tumors, the researchers point out In addition, chromosome fragmentation is directly related to the poor prognosis of cancer patients, but researchers hope to be able to carry out more such studies to help understand the impact of chromosome fragmentation and large-scale genome changes, so as to help improve the diagnosis and treatment of late cancer Original source: CORT é s-ciriano, I., Lee, J.J., Xi, R et al Comprehensive analysis of chrome IPS is in 2658 human cancers using whole genome sequencing NAT Genet (2020) Doi: 10.1038/s41588-019-0576-7