Scientists have uncovered over 5,000 genetic variations that allow some malignancies to grow, as well as a possible therapeutic target for treating or even preventing these cancers from arising.Researchers from the Wellcome Sanger Institute, The Institute of Cancer Research, London, and the University of Cambridge evaluated the health effects of genetic alterations in BAP1, a ‘tumour defence’ gene. They discovered that almost one-fifth of these potential mutations were pathogenic, considerably raising the likelihood of developing malignancies of the eye, lung lining, brain, skin, and kidney.
The findings, published in Nature Genetics, are freely available so that they can be immediately used by doctors to help diagnose patients and choose the most effective therapies for them1. Importantly, as all possible variants were assessed, the findings benefit individuals from diverse ethnic backgrounds, who have historically been underrepresented in genetics research.