Pan-Cancer Molecular Biomarkers: A Paradigm Shift in Diagnostic Pathology

Surg Pathol Clin. 2021 Sep;14(3):507-516. doi: 10.1016/j.path.2021.05.012.

Abstract

The rapid adoption of next-generation sequencing in clinical oncology has enabled the detection of molecular biomarkers shared between multiple tumor types. These pan-cancer biomarkers include sequence-altering mutations, copy number changes, gene rearrangements, and mutational signatures and have been demonstrated to predict response to targeted therapy. This article reviews issues surrounding current and emerging pan-cancer molecular biomarkers in clinical oncology: technological advances that enable the broad detection of cancer mutations across hundreds of genes, the spectrum of driver and passenger mutations derived from human cancer genomes, and implications for patient care now and in the near future.

Keywords: Cancer biomarkers; Molecular pathology; Next-generation sequencing; Targeted therapy.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor* / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • Neoplasms* / diagnosis
  • Neoplasms* / genetics

Substances

  • Biomarkers, Tumor