Cancer Research UK scientists say they have found more than 400 “blind spots” in DNA which could hide cancer-causing gene faults, according to a study (“Discrepancies in Cancer Genomic Sequencing Highlight Opportunities for Driver Mutation Discovery”) published in Cancer Research.

The researchers found hidden faults in areas that are tricky for gene-reading technology to decode. This technique, which unravels cancer's genetic blueprint, is an important part of the research that scientists carry out to understand more about cancer's biology.  By finding new ways to unlock these blind spots in the future, the scientists hope this will help us understand these mistakes and whether they lead to cancer. This could be a step towards developing tests to spot cancers earlier or provide new tactics for discovering future cancer treatments.

The team, from the Cancer Research UK Manchester Institute, compared two giant gene databases made from cancer cells grown in labs and cross-checked all the genes that are known, or are likely to be, involved in cancer to unearth the problem areas. They found that the 400 blind spots in the genes were hidden in repetitive DNA areas which cause the gene-reading technology to stutter. This problem reading the genes could conceal mistakes which might play a vital role in cancer.

“We have…mapped over 400 regions of consistent inadequate sequencing (cold-spots) in known cancer-causing genes and kinases, in 368 of which neither institute finds mutations,” wrote the investigators. “We demonstrate, using a newly identified PAK4 mutation as proof of principle, that specific targeting and sequencing of these GC-rich cold-spot regions can lead to the identification of novel driver mutations in known tumor suppressors and oncogenes.”

“The genes behind cancer are like a story. While we've been able to read most of the book using gene-reading technology, the limits of these tools mean some pages are missing,” said lead researcher Andrew Hudson, at the Cancer Research UK Manchester Institute at The University of Manchester. “These pages could just be unimportant filler, but we wonder if they might hold important twists in the plot which could affect our understanding of cancer. The next step in our work will be to find a way to open up these areas to help piece together the full story.”

“We're at an unprecedented point in cancer research,” added Nell Barrie, Cancer Research UK's senior science information manager. “As research accelerates we're revealing more and more about cancer's secrets and central to this is our better understanding of how genetic changes drive the disease. By delving deeper into cancer's genetic origins we can spot the ways the disease is triggered and develops. This could help us to tackle it from the root, giving more cancer patients a chance at surviving the disease.”

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