What I want to share with you today is from the tumor genome to precision medicine, what is a tumor, and what are the characteristics of a tumor. Let us first look at everyone's understanding of cancer.

Mutation accumulation leads to tumorigenesis

[Front] from genomic tumor factors to precision medicine

Tumors are some of the abnormal cells that gain growth and have the ability to invade or metastasize. Tumors are diseases with a high mortality rate. In China, about 4.3 million new tumors are added each year, and the death toll is as high as 2.8 million. A tumor is a genetic disease in which some mutations in the cell enable it to gain growth advantages, deviate from the normal cell apoptosis trajectory, and form a malignant tumor. Tumors are a general term for many diseases, and different tumors are different. Of course there are many other features, which we will not list here.

[Front] from genomic tumor factors to precision medicine

What we focus on today is that tumors are a kind of genetic disease. First, we understand the characteristics of tumors from three levels: tissue, cell and gene mutation. In the tumor sections, the tumor cells showed a mixed state; under the microscope, the number of chromosomes in the tumor nucleus was observed to be abnormal; the new gene mutation gained growth advantage and formed a subcloning. Sequencing results in a mixed signal that is subject to tumor purity, ploidy, and subcloning.

From the fertilized egg, the cell is dividing, the gene is copied and transcribed, and genetic mutation is inevitable. After a mutation, these mutations are retained if there is a problem with the repair. Of course, most of these mutations occur randomly, and if these mutations happen to be at some critical sites, tumor cells may be generated.

Second generation sequencing assists tumor genome research

[Front] from genomic tumor factors to precision medicine

How to study these mutations? The best current method is to sequence through the second generation. From the earliest discovery of DNA as a genetic material, and later discovered chromosomal mutations and gene mutations in tumors. In order to better study tumors and other human genetic diseases, it was recognized that a reference sequence was needed and, therefore, the human genome project was initiated and completed. The initial study of the tumor genome, using a generation of sequencing technology, and later the second generation of sequencing, began a large-scale tumor genome sequencing program, which can more deeply understand a series of problems in the development of tumors.

[Front] from genomic tumor factors to precision medicine

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