In silico saturation mutagenesis of cancer genes [article]

Ferran Muinos, Francisco Martinez-Jimenez, Oriol Pich, Abel Gonzalez-Perez, Nuria Lopez-Bigas
2020 bioRxiv   pre-print
Extensive bioinformatics analysis of these datasets of tumor somatic mutations data have revealed the presence of some 500-600 cancer driver genes. The identification of all potential driver mutations affecting cancer genes is essential to implement precision cancer medicine and to understand the interplay of mutation probability and selection in tumor development. Here, we present an in silico saturation mutagenesis approach to identify all drivermutations in 568 cancer genes across 66 tumor
more » ... pes. For most cancer genes the mutation probability across tissues --underpinned by active mutational processes-- influences which driver variants have been observed, although this differs significantly between tumor suppressor and oncogenes. The role of selection is apparent in some of the latter, the observed and unobserved driver mutations of which are equally likely to occur. The number of potential driver mutations in a cancer gene roughly determines how many mutations are available for detection across newly sequenced tumors.
doi:10.1101/2020.06.03.130211 fatcat:y3wnbdks3vbhlahkdsrvtpizjy