Table 4

 Outcome of prospective molecular genetic analysis using both immunohistochemical and microsatellite instability analysis in selected and unselected cases of colorectal cancer

Author, yearCriteria for selectionPrimary test usedMMR genes analysedCRCMutations identifiedProportion of mutation carriers with an abnormal test
IHC, antibodiesMSI, markersAbnormal IHCMSI-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 2000Consecutive cases210MLH1, MSH268*6 (3.5%)5/65/6
Cunningham et al,19 2001Consecutive cases36MLH1, MSH22575 (1.95%)5/55/5
Scartozzi et al,25 2002Bethesda criteria212MLH1, MSH2374 (10.8%)4/43/4
Engel et al,26 2006Bethesda/Amsterdam25MLH1, MSH21119230 (20.5%)216/230230/230
Hampel et al,20 2005Population based45MLH1, MSH2, MSH6, PMS2106623 (2.1%)21/2321/23
Pinol et al,21 2005Population based21MLH1, MSH2122211 (0.9%)11/1110/11
Southey et al,27 2005CRC <45 years410MLH1, MSH2, MSH6, PMS213118 (13.7%)18/1817/18
Barnetson et al,24 2006CRC <55 years35MLH1, MSH2, MSH687038 (4.3%)25/2728/30
Niessen et al,28 2006CRC <50 years or CRC plus cancer associated with CRC35MLH1, MSH2, MSH628125 (8.9%)23/2525/25
Total360328/349 (94%)344/352 (98%)