Pan-cancer whole-genome comparison of primary and metastatic solid tumours.

ABSTRACT: Metastatic cancer remains an almost inevitably lethal disease^1-3. A better understanding of disease progression and response to therapies therefore remains of utmost importance. Here we characterize the genomic differences between early-stage untreated primary tumours and late-stage treated metastatic tumours using a harmonized pan-cancer analysis (or reanalysis) of two unpaired primary⁴ and metastatic⁵ cohorts of 7,108 whole-genome-sequenced tumours. Metastatic tumours in general have a lower intratumour heterogeneity and a conserved karyotype, displaying only a modest increase in mutations, although frequencies of structural variants are elevated overall. Furthermore, highly variable tumour-specific contributions of mutational footprints of endogenous (fo

SUBMITTER: Martinez-Jimenez F 

PROVIDER: S-EPMC10247378 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature