Improved genetic tool reveals hidden mutations that can drive cancer

Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide insights into the earliest steps of cancer development and the role of mutations in healthy tissue.

The new study, published in Nature, was led by researchers from the Wellcome Sanger Institute, in collaboration with the TwinsUK study at King’s College London. The researchers introduced an improved version of nanorate sequencing (NanoSeq)—an ultra-accurate DNA sequencing technique.

By applying targeted NanoSeq to cheek swabs and blood samples from more than 1,000 volunteers, the team uncovered a rich landscape of mutations in healthy tissues, giving the most detailed picture so far of how tissues mutate over time.

As people age, their cells naturally acquire DNA mutations which are known as somatic mutations. Most are harmless, but some can provide a growth advantage, leading to “clones” of cells that carry the same mutations. As they multiply, some patches of clones have the potential to become the earliest stage in cancer development, but they may also contribute to aging and other diseases.

Sign up for Blog Updates