Genomic instability signals offer diagnostic possibility in early cancer detection

Trends Genet. 2021 Nov;37(11):966-972. doi: 10.1016/j.tig.2021.06.009. Epub 2021 Jul 1.

Abstract

Emerging evidence from the large numbers of cancer genomes analyzed in recent years indicates that chromosomal instability (CI), a well-established hallmark of cancer cells, is detectable in precancerous lesions. In this opinion, we discuss the association of this instability with tumor progression and cancer risk. We highlight the opportunity that early genomic instability presents for the diagnosis of esophageal adenocarcinoma (EAC) and its precancerous lesion, Barrett's esophagus (BE). With a growing body of evidence suggesting that only a small pool of cancer-related genes are involved in early tumor development, we argue that general genomic instability may hold greater diagnostic potential for early cancer detection as opposed to the identification of individual mutational biomarkers.

Keywords: Barrett’s esophagus; chromosomal instability; early detection.

Publication types

  • Review

MeSH terms

  • Adenocarcinoma* / diagnosis
  • Adenocarcinoma* / genetics
  • Adenocarcinoma* / pathology
  • Barrett Esophagus* / diagnosis
  • Barrett Esophagus* / genetics
  • Barrett Esophagus* / pathology
  • Disease Progression
  • Esophageal Neoplasms* / diagnosis
  • Esophageal Neoplasms* / genetics
  • Esophageal Neoplasms* / pathology
  • Genomic Instability / genetics
  • Humans