Pan-cancer inference of intra-tumor heterogeneity reveals associations with different forms of genomic instability
Fig 2
Genomic instability and intra-tumor heterogeneity.
A) Number of mutations (left panel) and number of clones (right panel) in tumor types and subtypes with high mutation instability. Samples are color coded by the their number of copy number changes, with high color intensity corresponding to high number of events. B) Number of copy number altered segments (left panel) and number of clones (right panel) in tumor types and subtypes with high chromosomal instability. Samples are color coded by the their number of mutations, with high color intensity corresponding to high number of events. C) Total number of mutations (Y-axis) versus of copy number altered segments (CNA, X-axis) for all tumor samples (n = 5593). Samples are grouped 4 classes: low numbers of mutations (<300) and CNA (<80) (gray), high number of mutations (>300) and low number of CNA (<80) (M class, green), high number of CNA (>80) and low number of mutations (<300) (C class, red), or high numbers of both mutations (>300) and CNA (>80) (MC class, orange). D) Number of clones in classes M, C, MC, and with Low Instability. Samples are color coded by the their total number of alterations, with high color intensity corresponding to high number of events. E) The mean number of clones increases (from cold to warm colors) in samples with relatively high numbers of both mutations and CNA. Axes are normalized by the maximum of the logarithm of the number of mutations (Y-axis) and CNA (X-axis). Acronyms: LUAD: lung adenocarcinoma, SKCM: skin melanoma, MSI: microsatellite instability, POLE: tumors with hotspot mutations of polymerase-ε gene, STAD: stomach adenocarcinoma, BRCA: breast cancer, UCEC: endometrial cancer, CIN: chromosomal instability.