Outcome of prospective molecular genetic analysis using both immunohistochemical and microsatellite instability analysis in selected and unselected cases of colorectal cancer
| Author, year | Criteria for selection | Primary test used | MMR genes analysed | CRC | Mutations identified | Proportion of mutation carriers with an abnormal test | ||
|---|---|---|---|---|---|---|---|---|
| IHC, antibodies | MSI, markers | Abnormal IHC | MSI-H/L | |||||
| CRC, colorectal cancer; IHC, immunohistochemical; MMR, mismatch repair; MSI, microsatellite instability. | ||||||||
| *The original number of consecutive CRCs was 168, including 143 sporadic cases and 25 suspected cases. In total, 43 sporadic cases and 25 suspected cases were analysed. | ||||||||
| Debniak et al,17 2000 | Consecutive cases | 2 | 10 | MLH1, MSH2 | 68* | 6 (3.5%) | 5/6 | 5/6 |
| Cunningham et al,19 2001 | Consecutive cases | 3 | 6 | MLH1, MSH2 | 257 | 5 (1.95%) | 5/5 | 5/5 |
| Scartozzi et al,25 2002 | Bethesda criteria | 2 | 12 | MLH1, MSH2 | 37 | 4 (10.8%) | 4/4 | 3/4 |
| Engel et al,26 2006 | Bethesda/Amsterdam | 2 | 5 | MLH1, MSH2 | 1119 | 230 (20.5%) | 216/230 | 230/230 |
| Hampel et al,20 2005 | Population based | 4 | 5 | MLH1, MSH2, MSH6, PMS2 | 1066 | 23 (2.1%) | 21/23 | 21/23 |
| Pinol et al,21 2005 | Population based | 2 | 1 | MLH1, MSH2 | 1222 | 11 (0.9%) | 11/11 | 10/11 |
| Southey et al,27 2005 | CRC <45 years | 4 | 10 | MLH1, MSH2, MSH6, PMS2 | 131 | 18 (13.7%) | 18/18 | 17/18 |
| Barnetson et al,24 2006 | CRC <55 years | 3 | 5 | MLH1, MSH2, MSH6 | 870 | 38 (4.3%) | 25/27 | 28/30 |
| Niessen et al,28 2006 | CRC <50 years or CRC plus cancer associated with CRC | 3 | 5 | MLH1, MSH2, MSH6 | 281 | 25 (8.9%) | 23/25 | 25/25 |
| Total | 360 | 328/349 (94%) | 344/352 (98%) | |||||