Mutation in 'junk DNA' behind several deadly cancers

A single typo in the "dark matter" of the genome drives multiple types of cancer.

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  • Only about 2 percent of the human genome codes for proteins; the rest is called noncoding DNA.
  • We used to think this portion of the genome served almost no purpose. Now, however, we have learned that it performs several important biological functions, though much of it is still unknown. This lack of insight is why it's sometimes referred to as the "dark matter" of the human genome.
  • In two studies, researchers from Ontario discovered a mutation in this genetic dark matter that changes how gene products are spliced, potentially resulting in several different kinds of cancer.
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