| HRA000762
(Controlled Access)
|
In this study, we characterized the evolutionary pattern of metastatic CRC (mCRC) by analysing bulk and single-cell exome sequencing data of primary and metastatic tumors from 7 CRC patients with liver metastases. Here, 7 CRC patients had bulk WES, and 4 for whom both bulk and single cell sequencing were pursued. Despite low genomic divergence between paired primary and metastatic cancers in the bulk data, single-cell whole-exome sequencing (scWES) data revealed rare mutations and defined two separate cell populations, indicative of the independent evolutionary trajectory between primary and metastatic tumor cells. We further identified 24 metastatic cell-specific mutated genes and validated their functions in cell migration capacity. In summary, scWES revealed rare mutations that failed to be detected by bulk WES. These rare mutations better define the distinct genomic profiles of primary and metastatic tumor cell clones. |
