Fig. 2: Intratumour heterogeneity of DNA copy number aberration.

a Genome-wide DNA copy number profiles of each tumour region. Profiles showing chromosomal instability (CIN) are labelled with a black bar on the right. b Example of an allele specific DNA copy number profile and superimposed copy numbers of somatic mutations from Tumour 4. This allows timing of CIN/genome duplication, demonstrating late acquisition, as large numbers of mutations are located on the major alleles for most gained chromosomes. c Ubiquitous loss of heterozygosity (LOH) or copy number gains identified in each of the four tumours. Tumour suppressor genes commonly mutated in dMMR GOAs and which are located on chromosomes showing ubiquitous LOH are labelled. d Examples of the allele specific copy number and copy number of corresponding somatic mutations for Chr8 and e for Chr20 which showed recurrent ubiquitous gains in our series.