Screening for large bowel neoplasms in individuals with a family history of colorectal cancer

Br J Surg. 1992 Jun;79(6):488-94. doi: 10.1002/bjs.1800790606.


Logistical problems associated with population screening for colorectal cancer are identified and the possibility of targeting screening to those with a familial predisposition to the disease is discussed. Evidence for a substantial genetic effect on the overall incidence of colorectal cancer is reviewed. The screening detection rate of colorectal neoplasms in relatives of patients with colorectal cancer has been shown to be higher than that expected in a non-selected population; the evidence that polypectomy will reduce future colorectal cancer risk in such individuals is explored. Recent advances in the molecular genetics of colorectal cancer susceptibility are reviewed; it is possible that a genetic test might be developed in the future which could identify at least a proportion of those at risk. Excluding financial considerations, the risk-benefit ratio of colonoscopy in a screened population is intimately related to the remaining risk of colorectal cancer in those who undergo the examination. At present, patients undergoing colonoscopy to investigate a positive faecal occult blood (FOB) test as part of a population-based screening programme include individuals with a familial predisposition as well as those without. About 20 per cent of all cases of colorectal cancer are associated with an obvious genetic predisposition, and the risk of cancer in their relatives is high. Because false positives occur with Haemoccult, the residual risk to the population who are FOB positive but do not have a familial trait may be sufficiently low that the dangers of colonoscopy could outweigh the potential benefits. Scotland has a high incidence of colorectal cancer, and analysis of recent Scottish incidence data shows an actuarial lifetime risk of developing this disease of one in 23 for men and one in 33 for women. As a family history of the disease increases that risk by two to four times and the neoplasms arise throughout the colon in such a group, there may be a case for offering colonoscopy to all first-degree relatives of those under 50 years of age at diagnosis, if not of all index cases of colorectal cancer.

Publication types

  • Review

MeSH terms

  • Colonic Neoplasms / genetics*
  • Colonic Neoplasms / prevention & control*
  • Family
  • Humans
  • Intestinal Polyps / surgery
  • Mass Screening / methods*
  • Rectal Neoplasms / genetics*
  • Rectal Neoplasms / prevention & control*