Table 1.
Characteristics of Probands From Each Colorectal Cancer Cohort Included in the Pooled-Data Analysis
| Characteristics | No. (%) | Total | |||
|---|---|---|---|---|---|
| Colon CFR17 | OSU4,9 | EPICOLON8 | University of Helsinki15,16 | ||
| Probands included, No. | 6535 | 1516 | 1222 | 933 | 10 206 |
| Age, mean (SD), y | 53.7 (11.4) | 63.2 (13.0) | 69.9 (11.3) | 67.4 (11.8) | 59.1 (13.4) |
| Male sex | 3305 (50.5) | 830 (54.9) | 731 (59.8) | 528 (56.6) | 5394 (52.8) |
| First-degree relatives with CRC | 1105 (16.9) | 331 (21.9) | 156 (12.8) | 142 (15.2) | 1736 (17.0) |
| Revised Bethesda guidelines | 3056 (46.8) | 561 (37.1) | 287 (23.5) | 156 (16.7) | 4060 (39.8) |
| Amsterdam criteria I |
85 (1.3) | 15 (1.0) | 18 (1.5) | 2 (0.2) | 120 (1.2) |
| II | 156 (2.4) | 35 (2.3) | 22 (1.8) | 31 (3.3) | 246 (2.5) |
| Tumor MMR deficiencya | 948 (14.5) | 214 (14.2) | 90 (7.4) | 133 (14.2) | 1386 (13.8) |
| Germline MMR gene mutationb | 227 (3.5) | 44 (2.9) | 11 (0.9) | 30 (3.2) | 312 (3.1) |
Abbreviations: CFR, Cancer Family Registry; CRC, colorectal cancer; MMR, mismatch repair; OSU, Ohio State University.
a
Tumor MMR testing was performed in 10 019 patients. MMR deficiency was defined as loss of MMR protein expression (MLH1, MSH2, MSH6, and/or PMS2) and/or microsatellite instability-high.
b
Germline MMR gene mutational analysis was done in 2650 probands.