Genetic susceptibility to colorectal cancer in patients under 45 years of age

Br J Surg. 1994 Oct;81(10):1485-9. doi: 10.1002/bjs.1800811029.


A study was conducted to assess the genetic contribution to the development of colorectal cancer in young probands. Of 83 patients aged 45 years or under diagnosed with colorectal cancer in one health region over a 2-year period, 65 or their surviving next of kin were available for interview, from whom were obtained 60 detailed and five limited family histories. Five families fulfilled the Amsterdam criteria and a further eight satisfied less strict criteria for hereditary non-polyposis colorectal cancer, a total of 20 per cent of the cohort. Eleven of these families came from the subgroup of 13 probands who had one or more first-degree relatives with colorectal cancer. Overall the relative risk of colorectal cancer in close relatives was 5.2 (P < 0.0001). This risk was highest for female relatives at 9.7 (P < 0.0001) and relatives of female probands at 6.7 (P < 0.0001). This study highlights the importance of taking a family history in this group of patients. Screening by colonoscopy for all close relatives of young patients with colorectal cancer is recommended.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cohort Studies
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Disease Susceptibility
  • Female
  • Humans
  • Male
  • Pedigree
  • Risk Factors
  • Sex Factors