Current Colorectal Cancer Reports

, Volume 4, Issue 1, pp 48–54

Who requires genetic testing?

  • Francesc Balaguer
  • Sergi Castellví-Bel
  • Victòria Gonzalo
  • M. Dolores Giráldez
  • Teresa Ocaña
  • Antoni Castells
Article
  • 24 Downloads

Abstract

Colorectal cancer (CRC) is the second most common cancer worldwide and the second leading cause of cancer mortality in Western countries. The lifetime risk of CRC in the average-risk person—one aged above 50 years and without a personal or family history of this neoplasm—is 5% to 6%. This risk may be as high as 20% if first-or second-degree relatives have CRC and reaches a lifetime risk of 80% to 100% in hereditary syndromes. Knowledge of the genetic basis for CRC has been applied to genetic testing, genotypic-phenotypic correlations, and provision of a rationale for chemopreventive and therapeutic approaches. This article reviews the most relevant recent advances in the genetics of polyposis and nonpolyposis colorectal syndromes, emphasizing their clinical application in gene testing.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Francesc Balaguer
  • Sergi Castellví-Bel
  • Victòria Gonzalo
  • M. Dolores Giráldez
  • Teresa Ocaña
  • Antoni Castells
    • 1
  1. 1.Department of GastroenterologyHospital ClínicBarcelona, CataloniaSpain

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