Fig. 3: The mutation landscape of SNVs and SVs across radiation-induced malignancies.
From: Mutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice
a Distribution of mutations identified in mammary tumours by individual samples. Each column is one chromosome (x-axis). Total count of mutations is on the y-axis. Mutations are coloured by type. Sub: Substitutions (SNVs), ITX: Intrachromosomal translocation, INV: Inversion rearrangements, INS: insertion rearrangements, DEL: deletion rearrangements, CTX: Complex or inter-chromosomal translocations, Complex: Complex insertions. Number of base pairs impacted by each mutation type is plotted on the y-axis in logarithmic scale. b Distribution of mutations (as in a) in each WGS mammary tumour sample sorted by chromosome. Each column corresponds to one unique sample and each facet box encompasses one chromosome. Large scale variants were found mainly in chromosomes 1, 6, 11 and 17. c Frequency (x-axis) of structural variants observed in mammary tumours based on radiation quality, Trp53 genotype and tumour histology. ITX: intrachromosomal translocation, INV: inversion rearrangements, INS: insertion rearrangements, DEL: deletion rearrangements, ANP: aneuploidy. Carcinomas have more SVs than sarcomas from the same cohort of mice, and large inversions are enriched in tumours from Trp53+/− mice exposed to gamma radiation. d Incidence of focal and non-focal genomic events in mammary tumours based on radiation quality, germline Trp53 genotype and tumour histology. A higher rate of focal mutations (red and orange blocks) is observed in Fe-Ion associated carcinomas. Large non-focal structural variants (green and blue blocks) were more prevalent in samples induced by gamma radiation. Mammary sarcomas have significantly fewer structural variants than mammary carcinomas from the same cohorts of mice, independent of radiation quality and Trp53 genotype. e Distribution of structural variants identified in the same samples as in c by size across the mouse genome. Size (y-axis) is shown by log scale. Chromosome number is shown along the bottom. Most SVs are small and less than 1 MB, as expected.
