Table 1.
List of the MSH6 probands, IHC/MSI results and mutation information including; exon, nucleotide change, consequence of mutation and references.
| Family ID | IHC/MSI results | Exon | Nucleotide Change | Consequence of Mutation | LOVD database ID |
|---|---|---|---|---|---|
| MSH6_10 | -veMSH2, +veMSH6 | 1 | c.1_457del | Deletion | DB-ID: MSH6_00001 |
| MSH6_8 | Not available | 2 | c.458_627del | Truncating | DB-ID: MSH6_00336 |
| MSH6_5 | -ve MSH6 | 3 | c.458_657del | Exon deletion | Not previously reported |
| MSH6_29 | Not available | 3 | c.620del | Frameshift | Not previously reported |
| MSH6_7 | +ve MLH1, MSH2, PMS2. MSH6; uninformative MSI-High | 4 | c.674insTG | Frameshift/Stop | Not previously reported |
| MSH6_19 | -ve MSH6 | 4 | c.710delG | Frameshift/Stop | DB-ID: MSH6_00702* |
| MSH6_17 | Not available | 4 | c.723dupT | Nonsense substitution/Stop | Not previously reported |
| MSH6_23 | -ve MSH6 | 4 | c.1404_1405delTC | Truncating | Not previously reported |
| MSH6_4 | -ve MSH6 MSI-High | 4 | c.2150_ 2153delTCAG | Frameshift | DB-ID: MSH6_00175 |
| MSH6_27 | MSH6; isolated loss | 4 | c.2348_2349del | Truncating | DB-ID: MSH6_00442 |
| MSH6_6 | Not available | 4 | c.2765delG | Frameshift | DB-ID:MSH6_00703* |
| MSH6_1 | Not available | 4 | c.2535dupT | Frameshift/Stop | DB-ID: MSH6_00701* |
| MSH6_20 | -ve MSH6 MSI-High | 4 | c.2731C>T | Truncating | DB-ID: MSH6_00071 |
| MSH6_16 | -ve MSH6 | 4 | c.2976delA | Truncating | Not previously reported |
| MSH6_25 | -ve MSH6 MSI-High | 4 | c.3142C>T | Nonsense substitution | Not previously reported |
| MSH6_3 | -ve MSH6 | 4 | c.3172+1G>T | Splice site | DB-ID: MSH6_00705* |
| MSH6_14 | Not available | 5 | c.3173_3556del | Deletion | DB-ID: MSH6_00482 |
| MSH6_13 MSH6_22 | -ve MSH6 -ve MSH6 | 5 | c.3202C>T | Truncating | DB-ID: MSH6_00487 |
| MSH6_18 | -ve MSH6 | 5 | c.3261dupC | Frameshift | DB-ID: MSH6_00201 |
| MSH6_12 | Not available | 5 | c.3261delC | Frameshift/Stop | DB-ID: MSH6_00203 |
| MSH6_9 | -ve MSH6 MSI-High | ||||
| MSH6_11 | -ve MSH2, +ve MSH6 | 5 | c.3268_3274delGACCTTA | Truncating | DB-ID: MSH6_00706* |
| MSH6_21 MSH6_26 | -ve MSH6 -ve MSH6 | 5 | c.3312delT | Truncating | DB-ID: MSH6_00497 |
| MSH6_15 | -ve MSH6 | 6 | c.3439-1G>T | Splice site | DB-ID: MSH6_00713* |
| MSH6_28 | -ve MSH6 | 6 | c.3556+3_3556+13delGAGTTTTTTGT | Splice site | DB-ID: MSH6_00661 |
| MSH6_24 | Not available | 7 | c.3646+2dupT | Splice site | Not previously reported |
| MSH6_2 | MSI-High | 8 | c.3724del13 | Frameshift/Stop | Not previously reported |
26 different MSH6 mutations have been detected in our patient cohort. Not previously reported = not reported in the Leiden Open Variation Database (LOVD), the Mismatch Repair Genes Variant Database (Memorial University of Newfoundland) or the InSIGHT database as a HNPCC/Lynch syndrome mutation. DB-ID = Database identification number from LOVD.
#-ve = loss of protein expression, +ve = protein expression present
*Submitted to LOVD by our research group