Genetic and epigenetic traits as biomarkers in colorectal cancer

Int J Mol Sci. 2011;12(12):9426-39. doi: 10.3390/ijms12129426. Epub 2011 Dec 16.

Abstract

Colorectal cancer is a major health burden, and a leading cause of cancer-related deaths in industrialized countries. The steady improvements in surgery and chemotherapy have improved survival, but the ability to identify high- and low-risk patients is still somewhat poor. Molecular biology has, over the years, given insight into basic principles of colorectal cancer initiation and development. These findings include aberrations increasing risk of tumor development, genetic changes associated with the stepwise progression of the disease, and errors predicting response to a specific treatment. Potential biomarkers in colorectal cancer are extensively studied, and how the molecular aberrations relate to clinical features. Yet, little of this knowledge has been possible to transfer into clinical practice. In this review, an overview of colorectal cancer genetics will be given, as well as how aberrations found in this tumor type are proposed as biomarkers for risk prediction, as diagnostic tools, for prognosis or prediction of treatment outcome.

Keywords: biomarker; chromosomal instability; colorectal cancer; diagnostic marker; epigenetics; microsatellite instability; mutations; predictive marker; prognostic marker; risk marker.

Publication types

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

MeSH terms

  • Animals
  • Biomarkers, Tumor / genetics*
  • Carcinoma / diagnosis*
  • Carcinoma / genetics
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics
  • Epigenesis, Genetic*
  • Humans
  • Microsatellite Repeats
  • Mutation

Substances

  • Biomarkers, Tumor