Objective: To quantify any risk for colorectal cancer in first-degree
relatives of patients with common colorectal cancer and to define poss
ible markers for increased risk. Design: Case-control family study. Pa
tients: Relatives of colorectal cancer patients and of matched control
patients from a one-surgeon practice. Methods: Family medical histori
es were obtained for 7493 first-degree relatives and 1015 spouses of 5
23 case-control pairs. Reported diagnoses of colorectal cancer in rela
tives were verified in 79% of instances. Results: By case-control anal
ysis, the odds ratio was 1.8 (95% CI, 1.2 to 2.7) for one and 5.7 (CI,
1.7 to 19.3) for two affected relatives. By matched analysis of risk
in relatives, the increased risk to parents and siblings was 2.1 times
greater for case patients than for control patients (CI, 1.4 to 3.1);
3.7 times greater (CI, 1.5 to 9.1 ) with case patients diagnosed befo
re 45; and 1.8 times greater (CI, 1.2 to 2.9) with case patients diagn
osed at 45 years or older; and was independent of gender, type of rela
tive, site of cancer, and type of cancer (single or multiple). The cum
ulative incidence, among first-degree relatives was greater for case p
atients than for control patients (P < 0.001), and in case patients, g
reater for those diagnosed before 55 years of age (P < 0.001). The cum
ulative incidence (+/- S.E.) to age 80 was 11.1% +/- 1.3%, 7.3% +/- 0.
8%, and 4.4% +/-1.0% among relatives of case patients diagnosed before
age 45 years, between 45 and 54 years, and at 55 years or older, resp
ectively, and was 2.4% +/- 0.6% in relatives of control patients. Conc
lusions: First-degree relatives of patients with common colorectal can
cer have an increased risk for colorectal cancer. This risk is greater
if diagnosis was at an early age and is greater when other first-degr
ee relatives are affected. This increased risk should be considered wh
en formulating screening strategies.