What do we know about somatic noncoding mutation patterns in cancer?

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Over the last couple of years, scientists were able to identify many somatic driver mutations in protein-coding regions of the genome. This part of DNA comprises only 2% of the human genome. What about the remaining 98%?

The 98% of our genome, called the non-coding genome, encompasses a large variety of DNA elements, such as regulatory regions responsible for gene expression. Recently in the prestigious journal Science, a  comprehensive overview of mutation patterns in these regions was published. The authors hypothesized that the noncoding genome might possess multiple somatic mutations, which are characteristic of different cancer types and have a significant role in cancerogenesis. They developed a new bioinformatic approach, which consists of three complementary analytic methods. This approach automatically stratified mutation events into different categories on the basis of their position in the genome. The scientists analyzed the whole genome of nearly 4000 patients who suffered from 19 different cancer types.

Many mutations were found in adjacent regions to genes expressed only in specific tissue types. However, due to their linkage to localized mutagenesis, there are relatively low chances that they might be a new driver mutation. During the study, several mutations were also found in regulatory regions of gene expression with a known role in cancer development such as BCL6, TERT, or XBP1. In total, more than 61 million somatic mutations were detected. So, what does the result of this study contribute to science?

It is the first time in  history that we have discovered  a non-coding mutation pattern for 19 different cancer-type genomes. This might be the first step in developing new therapies with the target in the cancers’ noncoding genome.

What do we know about somatic noncoding mutation patterns in cancer?
October 13, 2022

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