Genetic testing in hereditary colorectal cancer: indications and procedures

Am J Gastroenterol. 1999 Sep;94(9):2344-56. doi: 10.1111/j.1572-0241.1999.01356.x.


Approximately 25% of colorectal cancers occur in younger individuals or those with a personal or family history of the disease, suggesting a heritable susceptibility. The minority of these cases are accounted for by one of the well-described hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). The recent identification and cloning of the genes responsible for FAP and HNPCC, along with other colon cancer susceptibility genes, has led to the wide-spread availability of genetic testing for hereditary colorectal cancer. Genetic testing raises clinical, ethical, legal, and psychosocial questions that must urgently be discussed. This review highlights areas of knowledge and uncertainty about genetic predisposition testing for colorectal cancer and provides clinicians with practical recommendations regarding the proper indications and procedures for this testing.

Publication types

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

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / genetics
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Genetic Counseling
  • Humans
  • Polymorphism, Genetic