Table 4.

Colon CFR proband characteristics by ascertainment source

Population based
Clinic-based affected
Clinic-based unaffected
Phase I*Phase IIPhase I*Phase IIPhase I*Phase II
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
    American Indian/Alaska Native5730140193
    Native Hawaiian or other Pacific islander2619100147
    Black or African American1383482621497
    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.