Table 1.

Clinicopathologic features of colorectal cancer probands stratified by MSI status

MSS (73%)
MSI-L (13%)
MSI-H (14%)
OR (95% CI)
OR (95% CI)
OR vs. OR
Wgt N* (%)Wgt N*(%)Wgt N*(%)MSI-L vs MSSMSI-H vs MSSP
Age at diagnosis (y)
    <40153 (3.1)22 (2.5)55.0 (5.7)11
    40-49674 (13.7)125 (13.9)115.1 (12.0)1.28 (0.63-2.63)0.48 (0.27-0.84)0.01
    50-591,480 (30.0)252 (27.8)148.8 (15.5)1.17 (0.59-2.34)0.28 (0.16-0.49)0.0004
    60-691,709 (34.6)271 (30.0)376.8 (39.2)1.1 (0.54-2.21)0.61 (0.35-1.07)0.15
    +70921 (18.7)234 (25.9)265.6 (27.6)1.75 (0.8-3.85)0.8 (0.45-1.42)0.08
Heterogeneity P0.49<0.0001
Sex
    Female2,116 (42.9)341 (37.7)533.5 (55.5)11
    Male2,814 (57.1)564 (62.3)427.7 (44.5)1.24 (0.88-1.76)0.6 (0.44-0.82)0.001
Heterogeneity P0.210.0014
Site of tumor
    Proximal1,234 (25.0)305 (33.7)622.4 (64.8)11
    Distal3,281 (66.5)487 (53.8)253.8 (26.4)0.6 (0.42-0.87)0.15 (0.11-0.22)<0.0001
    Other421 (8.5)113 (12.5)85.0 (8.8)1.08 (0.52-2.23)0.4 (0.23-0.69)0.02
Heterogeneity P0.01<0.0001
Number of first-degree relatives with colorectal cancer
    04,024 (81.5)756 (83.6)728.2 (75.8)11
    1774 (15.7)134 (14.8)165.7 (17.2)0.92 (0.63-1.33)1.18 (0.86-1.62)0.26
    2117 (2.4)13 (1.4)51.1 (5.3)0.57 (0.28-1.16)2.42 (1.41-4.14)0.0002
    ≥322 (0.5)2 (0.2)16.3 (1.7)0.47 (0.08-2.66)4.01 (1.19-13.51)0.007
Heterogeneity P0.380.002
Number of first-degree relatives with endometrial cancer
    04,793 (97.1)891 (98.5)912.7 (95.0)11
    ≥1144 (2.9)14 (1.5)48.5 (5.0)0.52 (0.18-1.49)1.77 (1.07-2.93)0.02
Heterogeneity P0.220.02
Number of first-degree relatives with any other cancer than colorectal cancer or endometrial cancer
    02,239 (45.4)410 (45.4)394.9 (41.1)11
    11,672 (33.9)303 (33.5)354.3 (36.9)0.99 (0.69-1.42)1.2 (0.85-1.7)0.4
    2754 (15.3)106 (11.7)149.7 (15.6)0.76 (0.39-1.5)1.13 (0.73-1.74)0.31
    ≥3272 (5.5)86 (9.5)62.3 (6.5)1.73 (0.88-3.39)1.3 (0.7-2.4)0.48
Heterogeneity P0.300.69
Had first-degree relatives with both colorectal cancer and endometrial cancer
    No4,896 (99.2)903 (99.9)933.6 (97.1)11
    Yes41 (0.8)1 (0.1)27.6 (2.9)0.13 (0.02-1.02)3.54 (1.72-7.25)0.0015
Heterogeneity P0.050.0006
Amsterdam I
    No4,860 (98.4)894 (98.8)904.9 (94.1)11
    Yes78 (1.6)11 (1.2)56.3 (5.9)0.76 (0.34-1.69)3.9 (2.21-6.87)<0.0001
Heterogeneity P0.49<0.001
Amsterdam II
    No4,828 (97.8)893 (98.7)889.9 (92.6)11
    Yes109 (2.2)12 (1.3)71.3 (7.4)0.59 (0.28-1.25)3.55 (2.13-5.92)<0.0001
Heterogeneity P0.16<0.0001
Bethesda
    No3,150 (75.1)626 (69.2)524.5 (54.6)11
    Yes1,787 (71.4)279 (30.8)436.7 (45.4)0.78 (0.57-1.09)1.47 (1.09-1.98)0.002
Heterogeneity P0.140.01
  • Abbreviations: OR, odds ratio; 95% CI, 95% confidence interval.

  • * Per text, these are estimated numbers of probands corrected for proband weighting based on ascertainment criteria.

  • Proportion of covariates within each tumor MSI category (MSS/MSI-L/MSI-H) is calculated based on Wgt N.

  • Comparison between OR of MSI-L vs. MSS and OR of MSI-H vs. MSS.