Figure 4.
Whole exome sequencing of preclinical ACC models. A. Exome sequencing analysis of the human tumor sample and models revealed evidence of a CTNNB1 mutation in CU-ACC1 tissues and a TP53 mutation in CU-ACC2 tissues. Mutated gene allele frequencies were higher in the models compared to primary human tumors showing enrichment for the mutated clones. B. Sashimi plot of the CU-ACC2 human blood (H blood) confirms the heterozygous germline loss of MSH2 exons 1–6, with a complete loss of heterozygosity in the human tumor (H tumor), PDX and cell line.