Molecular alterations and biomarkers in colorectal cancer

Toxicol Pathol. 2014 Jan;42(1):124-39. doi: 10.1177/0192623313505155. Epub 2013 Oct 31.


The promise of precision medicine is now a clinical reality. Advances in our understanding of the molecular genetics of colorectal cancer (CRC) are leading to the development of a variety of biomarkers that are being used as early detection markers, prognostic markers, and markers for predicting treatment responses. This is no more evident than in the recent advances in testing CRCs for specific molecular alterations in order to guide treatment with the monoclonal antibody therapies cetuximab and panitumumab, which target the epidermal growth factor receptor. In this review, we update a prior review published in 2010 and describe our current understanding of the molecular pathogenesis of CRC and how these alterations relate to emerging biomarkers for early detection and risk stratification (diagnostic markers), prognosis (prognostic markers), and the prediction of treatment responses (predictive markers).

Keywords: BRAF; EGFR; KRAS; MSI; biomarkers; cetuximab; chromosome instability; colon cancer; microsatellite instability; panitumumab..

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Biomarkers, Tumor / blood*
  • Cetuximab
  • Colorectal Neoplasms / blood*
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / drug therapy
  • ErbB Receptors / antagonists & inhibitors
  • Humans
  • Panitumumab
  • Prognosis
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Signal Transduction


  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Biomarkers, Tumor
  • Proto-Oncogene Proteins
  • Panitumumab
  • ErbB Receptors
  • Cetuximab