A team of UK scientists has analyzed the complete genetic makeup of 12,000 tumors from NHS patients and discovered 58 new mutations that provide clues about their potential causes. The team, comprised of scientists from Cambridge University Hospitals and the University of Cambridge, used data from the 100,000 Genomes Project. That’s a British initiative to sequence the whole genomes of patients with cancers and rare diseases.
Team leader Professor Serena Nik-Zainal said this is the largest study of its kind and that the vast amount of data her team worked with allowed them to detect patterns in the genetic alterations or “mutational signatures” found in the tumors. By comparing their results with other studies, they were able to confirm that 58 of the mutational signatures they found were previously unknown. Some of them are pretty common, while some are rare.