Mosaic mutations in blood DNA sequence are associated with solid tumor cancers

Abstract

Cancer: Blood mutations linked to solid tumor risk Increased risk for solid tumors linked to mutations detected in blood samples that shorten the coding sequence of their genes. Mark Daly and colleagues from the Broad Institute in Cambridge, Massachusetts, USA, used large genomic databases to test whether having blood cells both with and without genetic variants predicted to shorten the encoded protein—a phenomenon known as mosaic protein-truncating variants (PTVs)—was associated with developing a range of solid-tumor cancers. They studied DNA from around 8,000 people with cancer and 6,000 healthy controls. Other studies have shown that mosaic PTVs precede and predict the development of leukemia. In this study, the scientists not only confirmed previous reports linking these variants to breast and ovarian cancer but also extended the association to include tumors of the brain, skin and lungs. These results broadly connect cancer to blood DNA changes.