New mutations in non-coding DNA are found in solid tumors

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New mutations in non-coding DNA are found in solid tumors

Postby whbio » Feb 27 2017 3:40 pm

A paper in “Cell” reveals that a new type of genetic mutation may contribute to cancer.

The study, carried out by Matthew Meyerson and Guangwu Guo from Broad Institute of Harvard and MIT, and Marcin Imielinski from Weill Cornell Medicine, shows that indels – the insertion or the deletion of DNA sequence -- in the non-coding regions of the genome can also cause cancer.

Cancer is a large group of diseases characterized by uncontrolled growth of abnormal cells in the body. These abnormal cells harbor the potential to invade other parts of the body. The World Health Organization says that more than 14 million people were diagnosed with cancer in 2012, and cancer was responsible for 8.8 million deaths worldwide in 2015. On average, about 1 in 6 deaths is due to cancer.

For centuries, scientists have been working relentlessly to end cancer. Numerous studies have suggested that conquering cancer is a long-term goal still far from being achieved. But scientists have already made some incredible progress. Now we know that cancer can be caused by mutations that disrupt the sequence of proteins.

Non-coding DNA are sequences of DNA that do not encode protein sequences. Most non-coding DNA has no known function, while some plays a key role in the regulation of gene expression. To determine whether non-coding DNA is associated with cancer, Imielinski and colleagues analyzed previous sequencing data of tumors. They identified indel hotspots in surfactant protein genes when they looked at lung adenocarcinoma, a form of lung cancer that accounts for nearly 40% of all lung cancer cases. Surfactant proteins are important for lung function but had not been linked to lung cancer previously.

The researchers also analyzed other solid cancers and identified highly recurrent and tumor-type-specific indel hotspots in the non-coding regions of genes critical to organ function. Similarly, these newly discovered mutations had not been linked to cancer before.

Small insertions or deletions make up 24% of mutations that manifest in known genetic disease. For example, Huntington's disease and the fragile X syndrome are examples of insertion mutation. The present study highlights the connection between insertions and deletions in the non-coding regions of DNA and cancer. Further investigation is needed to elucidate the relationship between mutations in non-coding region and other human diseases. Cusabio is a manufacturer of proteins and antibodies. Website:
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