A recently discovered type of genetic mutation that transpires commonly in cancer cells may offer clues about cancer’s origins and new therapeutic targets, according to research from Weill Cornell Medicine .

By using next-generation sequencing technology, scientists have traced cancer’s roots to mutations that interrupt the sequence of proteins. As a result, the cell either creates hyperactive versions of proteins or fails to produce them completely, essentially leading to cancer.

The study explains that small insertions or deletions of DNA sequence, called “indels" are applied in regions of the genome that do not code for protein. These non-coding regions contain sequences that affect how genes are regulated, which is crucial for normal cell development and division. But we already know they are biologically important; the real question is whether they can impact cancer development.

In the study, scientists analyzed sequencing data from multiple databases of tumor samples, focusing on the 98 percent of the genome that does not code for protein. Initially, they analyzed lung adenocarcinoma, the most common type of lung cancer, and found that the most recurrent indel-mutated regions in their genomes landed in genes encoding surfactant proteins (plays a huge role in the immune system). But although these genes are essential for healthy lung function, they had not previously been related with lung cancer by experts. However, they are highly and specifically affected and expressed by the cell type that causes lung adenocarcinoma.

To confirm their hypothesis, researchers then observed the genomes of 12 other cancer types and found similar patterns in liver, stomach, and thyroid tumors.

Finally, they discovered that in each cancer, noncoding indels grouped in genes that are vital to organ function, but had not been previously associated with the cancer. They also found that, most strikingly, these noncoding indels are most common, occurring in 20- 50 percent of the associated cancer.

A consultant for the company 10X Genomics, Lmielinski said “’Any gene or any sequence that mutated at this frequency has been shown to play a casual role in cancer. That would be an exciting outcome if we can prove it”. As even if these mutations are currently not shown to cause cancer, they can be used in the future to improve cancer diagnosis and treatments.

These mutations are clear indicators to help us diagnose a cancer, early, and learn as much as we can about it.