For the first time, it is found that the noncoding region of DNA is strongly associated with cancer risk

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Researchers from the Mayo Clinic in California found that people who carry a "G" instead of an "A" at a particular site in the genetic coding sequence in the body have a higher probability of having certain types of brain cancer than normal people About 6 times.

The study was completed by geneticists Margaret Wrensch, Professor John Wiencke and others, and was published in the journal Nature Genetics on August 26. This disease accounts for approximately 4,600 people in the 23,000 brain cancer cases diagnosed in the United States each year.

Based on this discovery, scientists have begun to consider related clinical tests, only through blood tests, they can tell patients with abnormal brain scans what kind of tumor they have

Researchers also need to understand how this particular DNA change triggers tumors, Wrensch said, because "this is the first case discovered. Changes in the noncoding region of DNA are closely related to cancer risk."

A few years ago, when the researchers began to capture genomic regions that may be associated with the development of gliomas, they discovered that a region with single nucleotide polymorphism SNPs on chromosome 8 is associated with brain cancer, and later Wrensch People use advanced genomic technology to search for SNPs that cause brain cancer.

They found seven candidate genes, one of which is called rs55705857. This gene is for gliomas, just as BRCA1 is for breast cancer.

Interestingly, this region can only be discovered through the most laborious method: next-generation sequencing methods, which shows that experimental and mathematical shortcuts may miss such rare, high-potential genetic mutations, the authors said.

Wrensch et al. Found that patients with a SNP, "G", or guanine, had a slow development of glioma, while patients with the more common "A" adenine polymorphism did the opposite.

"It's important to understand how this mutation makes patients' tumors develop slowly (still fatally)," Wrensch said. "It may eventually be possible to discover ways to reverse the course of these tumors or prevent the formation of tumors."

In addition, the researchers also compared the entire sequence of this genetic variation in mammalian evolution and found that this gene is very conservative, which can be traced back to the platypus. The researchers also used computer modeling to indicate that this region may encode a small molecule of RNA, a nucleotide that can regulate the activity of genetic information in the cell.

This model found that SNP is located in the functional region of small RNA, which indicates that the genetic change from "A" to "G" has serious consequences. The research team is analyzing what this small molecule RNA does exist and what its function might be.

"The changed small-molecule RNA may target tumor suppressor genes, may stimulate oncogenes, or may be involved in regulating the stability of the genome, or both," John Wiencke said. "One of the biggest challenges in the genome era today is finding the function of all these new gene mutations."

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