Table 3 Outcome of mismatch repair gene mutation analysis in relation to clinical criteria and results of microsatellite instability and immunohistochemical analysis in a population‐based or consecutive series of unselected colorectal cancer.
| Author, year | Primary test used | MMR genes analysed | Total number of CRCs | Pathogenic mutations identified | Proportion of mutation carriers that meet the clinical criteria | ||
|---|---|---|---|---|---|---|---|
| IHC, antibodies | MSI, markers | Amsterdam II | (Revised) Bethesda guidelines | ||||
| Aaltonen et al,16 1998 | — | 7 | MLH1, MSH2 | 509 | 10 (1.9%) | 7/10 | 10/10* |
| Debniak et al,17 2000 | 2 | 10 | MLH1, MSH2 | 68† | 6 (3.5%) | 1/6 | ? |
| Salovaara et al,18 2000 | — | 7 | MLH1, MSH2 | 535 | 18 (3.3%) | 12/18 | 17/18* |
| Cunningham et al,19 2001 | 3 | 6 | MLH1, MSH2 | 257 | 5 (1.95%) | 3/5 | ? |
| Hampel et al,20 2005 | 4 | 5 | MLH1, MSH2, MSH6, PMS2 | 1066 | 23 (2.1%) | 3/23 | 18/23 |
| Pinol et al,21 2005 | 2 | 1 | MLH1, MSH2 | 1222 | 11 (0.9%) | 4/11 | 10/11 |
| Total | 4627 | 111 (2.4%) | 30/73 (41%) | 55/62 (89%) | |||
–, not performed; ?, not evaluated; 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.
*Communicated with authors.