Table 3

Outcome of prospective molecular screening of CRC or LS-associated cancer

Author, year (reference)No/type of cancerScreening testOutcomePathogenic mutation (%)No of (%) mutation carriers fullfilling revised Bethesda guidelinesType of mutations
Hampel et al (2008)31 500 CRCMSI, immunohistochemistry
MLH1-methyl.
64 MSI-H (12.8%)18 (3.6%)13/18 (72%)4 MLH1
10 MSH2
3 MSH6
1 PMS2
Julie et al (2008)32214 CRCMSI, immunohistochemistry, BRAF, MLH1-methyl.21 MSI-H (9.8%)8 (3.7%)6/8 (75%)2 MLH1
5 MSH2
1 MSH6
van Lier et al (2012)331117 CRC
≤70 years
MSI, immunohistochemistry
MLH1-methyl.
121 MSI-H (10.9%)50 LS-like* (4.5%); 42 tested: 27 (2.4%) mutations20/27 (74%)5 MLH1
5 MSH2
11 MSH6
5 PMS2
1 EPCAM
125
Advanced adenoma ≤45 years
Idem3 (2.4%) LS-like; 3 (2.4%) mutationsN.A.2 MLH1
1 MSH2
Moreira et al (2012)3610.206 CRCMSI, immunohistochemistry
MLH1-methyl.
1386 MSI-H (13.8%)312 (3.1%)78/82 (88%)34 MLH1
33 MSH2
9 MSH6
6 PMS2
Canard et al (2012)351040 CRCMSI, immunohistochemistry (partly)
MLH1-methyl.
98 MSI-H (9.4%)25 (2.4%)22/25 (88%)4 MLH1
19 MSH2
2 MSH6
Hampel et al (2006)39543 ECMSI, immunohistochemistry (partly)
MLH1-methyl.
118 MSI-H (21.7%)9 (1.8%)N.A.1 MLH1
2 MSH2
6 MSH6
2 PMS2
Leenen et al (2012)40179 EC
≤70 years
MSI, immunohistochemistry
MLH1-methyl.
42 MSI-H (23%)11 (6.2%) LS-like; 7 mutations (3.9%)N.A.1 MLH1
2 MSH2
6 MSH6
2 PMS2
Plocharczyk et al (2012)4236
Sebaceous tumours
Immunohistochemistry14 MMR-protein loss (38.8%)5 (14%)N.A.Not reported
  • *LS-like: loss of expression of MMR proteins compatible with presence of MMR gene mutation.

  • CRC, colorectal cancer; IHC, immunohistochemistry; LS, Lynch syndrome; MMR, mismatch repair; MSI, microsatellites instability; NA, not applicable.