The largest study in history analyzing 'whole cancer genome' reveals details of gene mutations that promote tumor growth


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iLexx

Cancer , where autonomous, uncontrolled tumors invade and spread into tissues has killed people around the world, and researchers have been studying cancer treatment and early detection methods for many years. Researchers from around the world collaborate on a comprehensive cancer genome analysis project called the Pancancer Analysis of Whole Genomes (PCWAG), which reveals unprecedented levels of genetic variation associated with tumor growth It has been reported that

Pan-cancer analysis of whole genomes | Nature
https://www.nature.com/articles/s41586-020-1969-6

Global genomics project unravels cancer's complexity at unprecedented scale
https://www.nature.com/articles/d41586-020-00213-2

Massive cancer genome study reveals how DNA errors drive tumor growth | Science | AAAS
https://www.sciencemag.org/news/2020/02/massive-cancer-genome-study-reveals-how-dna-errors-drive-tumor-growth



Cancer is a disease in which the tumor begins to grow autonomously due to genetic mutations in cells, causing various problems in normal tissues. Therefore, comprehensive analysis of the entire cancer genome has been a major goal of cancer researchers since the completion of the

Human Genome Project, which analyzes the entire nucleotide sequence of the human genome .

Previous studies of cancer genomes have focused on exon regions that encode proteins for ease and cost, but exon regions represent only one of the cancer genomes. It only accounts for%. Researchers note that analysis of only the exon region has overlooked many of the potential for promoting cancer growth.

PCWAG is a spectacular project in which 1,300 researchers from all over the world work together to analyze the entire genome in 2658 samples of all 38 types of cancer. `` What is striking about these studies is the difficulty of doing such a systematic study, '' said Marcin , a cancer geneticist at the University of Michigan, regarding the work of the PCWAG, which has been ongoing for more than a decade. Cieslik said.


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National Cancer Institute

At PCWAG, extensive data quality control and data processing, large-scale systematic demonstration experiments of pipeline processing performed to detect gene mutation, etc. were required. PCWAG, which needed the vast amount of data distributed across multiple data centers and the computing power to process it, reports that the development of cloud computing has advanced the project.

In addition, the PCWAG research team not only performed a genome analysis of cancer, but also set up a system where each group could freely analyze the data in the database. Lincoln Stein of the Ontario Cancer Institute commented that there have been many new discoveries that have redefined existing thinking about cancer growth.

For example, in about one-fifth of the tumors, it turned out that a strange phenomenon called ' chromoslipsis ' occurred in which many parts of the chromosome collapsed and rearranged at once.

Furthermore, an average of 4 to 5 mutations in the ' driver gene, ' which play a direct role in the development and progression of cancer through mutations, were identified in each tumor. According to the analysis limited to the exon region, driver gene mutations were found in about 67% of all cancers, but in PCWAG it was found in 95% of the total, so more cancer patients than conventional thought Have been suggested to be compatible with drugs targeting the driver gene, the researchers say.


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In some countries, including the UK, genome analysis of individual tumors is already underway to provide appropriate treatment for cancer patients. PCWAG's research team has kept clinical records and genomic data of 100,000 patients and has begun to create a `` knowledge bank '' for physicians to determine the best treatment based on the genome of the patient's tumor It is

in Science, Posted by log1h_ik