Fig. 3: Genomic profiling and clonal evolution analysis of LEGACY patient 2.
From: Mapping the breast cancer metastatic cascade onto ctDNA using genetic and epigenetic clonal tracking
a Multiple samples from distinct metastatic deposits in different organs were collected from this patient, together with blood germline reference (buffy coat) and plasma. b Copy number alterations analysis highlights largely homogeneous copy number profiles. c Single-nucleotide variants analysis identified clonal PIK3CA and ERBB2 putative driver mutations and multiple subclonal truncating mutations in DNAÂ repair genes that seem to be responsible for the higher number of private mutations in Liver Met R2 and R3. d Mutational signature analysis highlights aging (signature 1A) but also APOBEC (signatures 2 and 13) as dominant mutational processes. e Clone tree shows early divergence for liver and lung metastases but largely monoclonal seeding of all lesions.
