Novel genetic and epigenetic alterations in ... - Ous-research.no

Figure 1. Mutation frequencies across two tumor series and a literature survey. MSI-H tumors from alllocations (right-sided, left-sided and rectum samples in the test series (sample range: 71-87); right-sided andleft-sided in the validation series (sample range: 46-108)) are included. The numbers from literature are takenfrom [10] and includes tumors reported as MSI and might also include cell lines and hereditary non-polyposiscolorectal cancer tumors in studies not specifying this. * Only one of two exons (exon 8) was analyzedsuccessfully in the validation series.Seven MSI-L tumors were included in the test series to determine the effect of a suboptimalfunction of the mismatch repair system on microsatellite mutagenesis. Both on the individualgene level (Figure 2) and at the total level the MSI-L tumors carried significantly lowernumbers of mutations compared to the MSI-H tumors. As only 7 MSI-L tumors areincluded, no statistics were performed.12