Outcome of prospective molecular screening of CRC or LS-associated cancer
| Author, year (reference) | No/type of cancer | Screening test | Outcome | Pathogenic mutation (%) | No of (%) mutation carriers fullfilling revised Bethesda guidelines | Type of mutations |
|---|---|---|---|---|---|---|
| Hampel et al (2008)31 | 500 CRC | MSI, 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)32 | 214 CRC | MSI, 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)33 | 1117 CRC ≤70 years | MSI, immunohistochemistry MLH1-methyl. | 121 MSI-H (10.9%) | 50 LS-like* (4.5%); 42 tested: 27 (2.4%) mutations | 20/27 (74%) | 5 MLH1 5 MSH2 11 MSH6 5 PMS2 1 EPCAM |
| 125 Advanced adenoma≤45 years | Idem | 3 (2.4%) LS-like; 3 (2.4%) mutations | N.A. | 2 MLH1 1 MSH2 | ||
| Moreira et al (2012)36 | 10.206 CRC | MSI, 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)35 | 1040 CRC | MSI, 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)39 | 543 EC | MSI, 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)40 | 179 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 |
| Plocharczyket al (2012)42 | 36 Sebaceous tumours | Immunohistochemistry | 14 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.