So far, the most complete cancer gene map is expected to identify tumor mutations decades in advance

Wen Wei Wei Wei Cancer is a kind of genetic disease caused by somatic cancer gene mutation As early as 2001, after sequencing the first human genome, the comprehensive genomic characterization of cancer has become a major goal of cancer researchers Since then, advances in sequencing technology and analytical tools have made this area of research flourish On February 5, Nature magazine and its subsidiary published more than 20 articles on cancer research at the same time An international team composed of more than 1300 scientists and clinicians from 37 countries completed the most comprehensive cancer genome research so far, which significantly improved our basic understanding of cancer and pointed out a new direction for cancer diagnosis and treatment Photo source: Nature This research is led by ICGC / TCGA genome wide cancer analysis (pcawg) project The project analyzed more than 2600 genomes of 38 different tumor types and created a huge genome resource of primary cancer In 2006, the Cancer Genome Atlas program (TCGA) was launched by the National Cancer Institute and the National Human Genome Institute The program covers 33 cancer types, including more than 20000 cancer and normal tissue molecular characteristics After 12 years of development, TCGA has produced massive data including genome, epigenome, transcriptome and proteome With the development of TCGA and the deepening of cancer research, people gradually realize that it is feasible to record every mutation of cancer in detail So in 2008, the International Cancer Genome Consortium (ICGC) was established by the global cancer genome association The goal of ICGC is to systematically record the mutations in various common cancers At the initial stage of its establishment, it plans to invest 1 billion US dollars, spend 10 years to study the mutation genes that can lead to cancer in detail and in-depth, gather the efforts of scientists from all over the world and draw a complete human cancer gene map, which is a research plan of equal significance with the human genome project Pan cancer analysis of whole genomes (pcawg) is an international cooperation project to determine the common mutation patterns of more than 2600 cancer genomes of ICGC Based on the previous study of cancer coding regions, this project explored the nature and consequences of somatic and germline variation in coding and non coding regions, with special attention to cis regulatory sites, non coding RNA and large-scale structural variation Previous studies have focused on 1% of the genome that encodes proteins, similar to mapping continental coastlines, for example The pan cancer project explored the remaining 99% of the genome in more detail, including key areas controlling gene switches, similar to mapping the interior of the continent The pan cancer project provides comprehensive resources for cancer genomics research, including original genome sequencing data, cancer genome analysis software, and multiple interactive websites exploring various aspects of Pan cancer project data The project also expanded advanced cancer genome analysis methods including cloud computing, discovered new knowledge of cancer biology, and confirmed the important findings of previous research In 21 papers published in nature and its journals, the pan cancer project mainly reports the following points: 1 The cancer genome is limited and known, but very complex By combining the whole cancer genome sequencing and analysis tools, we can describe every gene change found in cancer, all the processes of producing these mutations, and even the sequence of key events in the life history of cancer 2 Researchers have almost classified all biological pathways related to cancer and have a more comprehensive understanding of their role in the genome At least one causal mutation was found in almost all cancers analyzed, and the process of mutation was found to be quite different - from the change of single DNA base to the recombination of the whole chromosome Several new regions controlling gene switches in the genome have been identified as targets for carcinogenic mutations 3 Through a new "carbon dating" method, it is possible to identify mutations in the years, sometimes even decades, before tumors appear In theory, this opens a window of opportunity for early cancer detection 4 According to the gene change patterns seen in the whole genome, tumor types can be accurately identified, which may be helpful for the diagnosis of cancer types in patients when conventional clinical trials cannot recognize them An understanding of the exact tumor type is also helpful in developing treatment options In conclusion, the scientific research results disclosed in this disclosure reveal the extensive role of large-scale structural mutations in cancer, New cancer-related mutations have been found in the gene regulatory region, the evolution of various types of tumors has been inferred, the interaction between somatic mutations and transcriptome has been clarified, the role of germline genetic variation in the process of regulating mutations has been studied, and the data, tools and other resources used in the study have also been shown, which is very useful for researchers who want to further explore Help.