ERC Consolidator Grant · 2019
Exome and transcriptome sequencing has been performed on large series of tumor samples with the aim to discover cancer driver mutations. In most studies, only mutations that cause amino acid changes are considered, assuming that silent (= synonymous) mutations in protein coding regions are meaningless. Nevertheless, several experimentally tested silent mutations have been ascribed a causative role in disease. Our data support that silent nucleotide changes can enhance gene expression and cell transformation via novel mechanisms, independent of splicing. Thus, I hypothesize that the role of silent mutations in cancer is underestimated. We will develop bioinformatics and statistics approaches…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.