A study reported by the Dana-Farber Cancer Institute pointed toward the relationship between non-coding mutation and cancer risk. The study suggested that the numerous section of the non-coding region in the human genome play a key role in regulating gene activity associated with cancerous mutation, and epigenetic changes. In a new paper in the journal Nature Genetics, the scientist proposed that the specific DNA of the non-coding region are open locations for protein binding in comparison to other DNA spaces: resulting in a mutated activity of a gene involved in cancer. 

Dr. Alexander Gusev, Ph.D., of Dana-Farber, stated that the study has identified an enormous number of mutations across the genome that are involved in cancer. The study was based on Genome-Wide Association Studies (GWASs) in which the blood samples of the subjects were collected followed by scanning for mutation or other variations commonly found in people with cancer in comparison to their healthy counterparts.

The study identified 300 mutations associated with the disease out of which only 10% of them were located in the coding region. Rest 90% of the genome sequence was found in the “Deserted” region. They also performed an overlap study or commonly known as a colocalization study to find the association between mutation and epigenetic changes in seven common types of cancer. 

The result of the study showed that the most non-coding mutations don’t affect gene expression, however, they do have an impact on local epigenetic regulation. Hence, Mr. Gusev stated that this fact can be used to develop drugs by targeting the mutation-causing factors in people born with the Known mutation and at the risk of developing cancer.

(Source: https://www.hindustantimes.com/lifestyle/health/mechanism-linking-mutations-in-the-dark-matter-of-the-genome-to-cancer-study-101655266549987.html )