Review of biomarkers in colorectal cancer

Colorectal Dis. 2012 Jan;14(1):3-17. doi: 10.1111/j.1463-1318.2010.02439.x.


Aim: Advances in molecular technology have resulted in the discovery of many putative biomarkers relevant to colorectal cancer (CRC).

Method: Literature searches were performed on PubMed and EMBASE using the words 'colorectal cancer', AND 'biomarkers OR markers'. Biomarkers that are either currently in clinical use or have potential clinical use were identified.

Results: Most potential markers are in the discovery phase waiting to undergo clinical validation. Hypermethylation of the plasma septin-9 gene shows promise as a nonstool-based screening tool. Hypermethylation of the DYPD gene (encodes the enzyme dihydropyrimidine dehydrogenase) and variation of the uridine diphosphate-glucuronosyltransferase 1A (UGT1A1) gene have predictive value for side effects and the efficacy of 5-fluoruracil and irinotecan, respectively. Mismatch repair protein immunohistochemistry is able to predict response to 5-fluorouracil, and the KRAS (Kirsten rat sarcoma viral oncogene) and B-RAF (v-RAF murine sarcoma viral oncogene homolog B1) somatic gene mutation status can predict the response to anti-epidermal growth factor receptor therapy.

Conclusion: Recent advances indicate that the widespread use of biomarkers may herald the next major advance in the diagnosis and management of CRC.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor*
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / drug therapy
  • Colorectal Neoplasms / genetics*
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mass Screening
  • Predictive Value of Tests
  • Prognosis
  • Risk Assessment


  • Antineoplastic Agents
  • Biomarkers, Tumor