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 primary 4 and metastatic 5 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…

• UM
  Universitair Medisch Centrum Utrecht