Núria López-Bigas – Institut de Recerca Biomèdica (IRB Barcelona)

Cancer is a group of diseases characterised by uncontrolled cell growth caused by mutations, and other alterations in the genome of cells. A tumour can present from hundreds to thousands of mutations, but only a few are vital for its tumorigenic capacity. These key mutations affect the function of cancer driver genes. Finding the genes that harbour this cancer driver mutations is one of the main goals in cancer research.

Since cancer driver genes are under positive selection in tumorigenesis, identifying signals of positive selection in the patterns of somatic mutations across tumors is an effective way to identify cancer genes. We have implemented a systematic approach combining several of these signals to generate a compendium of mutational cancer genes. Its application to somatic mutations of more than 28,000 tumours of 66 cancer types revealed 568 cancer genes and points towards their mechanisms of tumorigenesis. The application of this approach to the ever-growing datasets of somatic tumour mutations will support the continuous refinement of our knowledge of the genetic basis of cancer.

All the results are available at http://www.intogen.org

Martinez-Jimenez F, Muinos F, Sentis I, Deu-Pons J, Reyes-Salazar I, Arnedo-Pac C, Mularoni L, Pich O, Bonet J, Kranas H,Gonzalez-Perez A, Lopez-Bigas N 2020, ‘A compendium of mutational cancer driver genes‘, Nature Reviews Cancer, 20, pages555–572.