Table 4.

Colon CFR proband characteristics by ascertainment source

Population based
Clinic-based affected
Clinic-based unaffected
Total
Phase I*Phase IIPhase I*Phase IIPhase I*Phase II
Sex
    Male3,0431,18223028252304,819
    Female3,0931,223230204112714,933
Age at diagnosis
    <30 y32683421N/AN/A155
    30-39 y2713419579N/AN/A786
    40-49 y9421,470192161N/AN/A2,765
    50-59 y1,8012108768N/AN/A2,166
    60-69 y2,1431863481N/AN/A2,444
    ≥70 y9471301876N/AN/A1,171
Primary site
    Colon (ICD-O: 18.0, 18.2-18.7)3,6981,178232211N/AN/A5,319
    Rectum (ICD-O: 19.9, 20.9, 21.8)1,965750127119N/AN/A2,961
    Colorectal (ICD-O: 18.8, 18.9, 26.0)28443497150N/AN/A965
    Appendix (ICD-O: 18.1)332641N/AN/A64
    Multiple sites (synchronous primaries)1561705N/AN/A178
Proband's FDR history of colorectal cancer
    0 affected FDRs4,5702,01718734315187,150
    1 affected FDR1,2883361669971452,005
    ≥2 affected FDRs27852107447838597
    Amsterdam-II613120961128
    Amsterdam-I267792028910161799
Race
    American Indian/Alaska Native5730140193
    Asian2793101523600
    Native Hawaiian or other Pacific islander2619100147
    Black or African American1383482621497
    White5,3661,333440459135897,822
    More than one race1002282741342
    Unknown or not reported170137135215351
Tumor MSI status (minimum of five markers required)
    MSI-high (30-100% makers unstable)53629834N/AN/A670
    MSI-Low (1-29% unstable)4312207N/AN/A460
    Microsatellite stable (0% unstable)2,6682116725N/AN/A2,881
Tumor MMR protein expression status (immunohistochemistry)§
    MLH1 or MLH1/PMS2 loss358364857N/AN/A499
    MSH2 or MSH2/MSH6 loss82174525N/AN/A169
    MSH6-only loss35191718N/AN/A89
    PMS2-only loss3424818N/AN/A84
    Other pattern of immunohistochemistry loss6100N/AN/A7
    No loss2,847431202238N/AN/A3,718
  • NOTE: Represents recruitment and data collection through December 31, 2006.

    Only incident probands recruited during the funding period (1998-2007) are reported. Additional cases (either cases that were not selected for full enrollment based on their family history or were prevalent cases) are excluded from this report.

  • * Phase I recruitment (1998-2002).

  • Phase II recruitment (2002-2007).

  • Results reported only if a minimum of four markers had definitive results. See Fig. 2 for testing scheme.

  • § Results reported only if a minimum of two proteins had definitive results. See Fig. 2 for minimum testing scheme. Some population-based sites stained all tumors, not just MSI+. Some sites did not stain for PMS2.