Clinical cancer genomic profiling

Nat Rev Genet. 2021 Aug;22(8):483-501. doi: 10.1038/s41576-021-00338-8. Epub 2021 Mar 24.


Technological innovation and rapid reduction in sequencing costs have enabled the genomic profiling of hundreds of cancer-associated genes as a component of routine cancer care. Tumour genomic profiling can refine cancer subtype classification, identify which patients are most likely to benefit from systemic therapies and screen for germline variants that influence heritable cancer risk. Here, we discuss ongoing efforts to enhance the clinical utility of tumour genomic profiling by integrating tumour and germline analyses, characterizing allelic context and identifying mutational signatures that influence therapy response. We also discuss the potential clinical utility of more comprehensive whole-genome and whole-transcriptome sequencing and ultra-sensitive cell-free DNA profiling platforms, which allow for minimally invasive, serial analyses of tumour-derived DNA in blood.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • DNA, Neoplasm
  • Gene Expression Profiling*
  • Gene Expression Regulation, Neoplastic
  • Genes, Neoplasm
  • Genome, Human
  • Germ-Line Mutation
  • Humans
  • Mutation
  • Neoplasms / genetics*


  • Biomarkers, Tumor
  • DNA, Neoplasm