Suggested screening guidelines for familial colorectal cancer

J Med Screen. 1995;2(1):45-51. doi: 10.1177/096914139500200112.


Guidelines for screening for colorectal cancer in subjects with a positive family history of the disease, without the use of DNA based screening, are outlined. These suggestions are derived from (a) the experience of screening 644 subjects at an estimated lifetime risk of dying from colorectal cancer of 10% or more, in the St Mark's Family Cancer Clinic, over six years, and (b) a review of published studies, particularly incorporating the experience of the International Collaboration Group on Hereditary Non-polyposis Colorectal Cancer (HNPCC). Selection of subjects for surveillance depends upon the empirical evaluation of their risk of colorectal cancer, based upon family history details, with the exclusion of a diagnosis of familial adenomatous polyposis in the family. When DNA predictive tests for genes predisposing to HNPCC are available, surveillance can be directed at subjects with a germline mutation known to confer an increased genetic risk of colorectal cancer and discontinued in those at lower (or average) risk. In many subjects, however, DNA testing may still not be possible because of the failure to identify a predisposing mutation in an affected subject in their family. Any surveillance protocol can only be evaluated by long term follow up of those subjects in multiple centres.

MeSH terms

  • Colonoscopy
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / prevention & control
  • DNA / analysis
  • Family
  • Female
  • Genetic Counseling
  • Guidelines as Topic
  • Humans
  • Male
  • Mass Screening / standards
  • Medical History Taking
  • Patient Selection
  • Pedigree
  • Predictive Value of Tests
  • Risk Assessment
  • Risk Factors


  • DNA