DR-388 The prevalence and burden of rare deleterious germline variants in cancer predisposition genes

The goal of this project is to identify germline variants that result in higher chances to develop cancer, since these may have consequences for (experimental) treatment and/or may have family consequences such as preventive measures and early detection. First we will determine the prevalence and burden of pathogenic germline variants in know and candidate cancer predisposition genes. Second we will try to establish relationships between predisposition genes (including new candidates) and the mutational signatures. Thirdly we will use transcriptome (RNAseq) data and focus on expression and splicing alterations of predisposition genes. Mutational signatures and transcriptome data will identify and/or aid in classifying pathogenic mutations.

Roelof Koster,  Stichting Het Nederlands Kanker Instituut – Antoni van Leeuwenhoek Ziekenhuis, the Netherlands