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, yearPrimary test usedMMR genes analysedTotal number of CRCsPathogenic mutations identifiedProportion of mutation carriers that meet the clinical criteria
IHC, antibodiesMSI, markersAmsterdam II(Revised) Bethesda guidelines
–, 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.
Aaltonen et al,16 19987MLH1, MSH250910 (1.9%)7/1010/10*
Debniak et al,17 2000210MLH1, MSH268†6 (3.5%)1/6?
Salovaara et al,18 20007MLH1, MSH253518 (3.3%)12/1817/18*
Cunningham et al,19 200136MLH1, MSH22575 (1.95%)3/5?
Hampel et al,20 200545MLH1, MSH2, MSH6, PMS2106623 (2.1%)3/2318/23
Pinol et al,21 200521MLH1, MSH2122211 (0.9%)4/1110/11
Total4627111 (2.4%)30/73 (41%)55/62 (89%)