Mosaicism for autosomal post-zygotic mutations
Prof. Arkadiusz Piotrowski
THE SCOPE OF THE RESEARCH
The group interests focus on somatic mutations that occur early in life in seemingly normal cells that eventually contribute to malignant transformation. Our ultimate goal is to develop a genetic screening approach for non-hereditary cancer risk assessment, years before first clinical symptoms become apparent. Our primary interest is in common malignancies that are etiologically related to environmental stimuli: breast cancer, colorectal cancer, urinary bladder cancer and prostate cancer. In order to achieve the main goal of the program we genotype samples for somatic point mutations, copy number alterations, as well as copy number neutral genomic structural rearrangements. The genomics is further combined with bulk and single cell expression analysis as well as biochemical and functional tests on patient-derived primary cell cultures. For this we utilize genotyping microarrays, targeted/whole-exome/whole-genome massively parallel resequencing of DNA, nanopore based long read sequencing or linked-reads DNA sequencing, laser microdissection combined with padlock probes for analysis of spatial mutation distribution in tissues, bulk RNA- and miRNA-seq, single cell RNA-seq as well as spatial transcriptomics. The resulting wet-lab data along with clinical characteristics and follow-up is subjected to downstream analysis by the bioinformatics team.