Mutations detected in 27 index MTS patients
| Patient number | Gene | Exon | Mutation | Effect | MSI status | MMR protein loss at IHC |
|---|---|---|---|---|---|---|
| *Mutation (according to current nomenclature) in this patient diagnosed with MTS or suspected MTS was reported previously4,15,19,20; †novel mutation not listed in the ICG-HNPCC database (http://www.nfdht.nl). IHC, immunohistochemistry; ND, not done; NT, no tumour tissue available. | ||||||
| 555 (MTS-23) | MSH2 | 1 to 6 | Deletion of exons 1–6 | Large deletion | MSI-H | ND |
| 554 (MTS-21) | MSH2 | 1 | c.145delG† | Frameshift | MSI-H | ND |
| 130 | MSH2 | 2 | c.289_290ins22bp* (c.268–289dup) | Frameshift | MSI-H | MSH2 |
| 593 | MSH2 | 2 | c.289C>T | Q97X | NT | NT |
| 435 (MTS-10) | MSH2 | 3 | c.380_381delAT* | Frameshift | MSI-H | NT |
| 162 | MSH2 | 3 | c.478C>T† | Q160X | MSI-H | MSH2 |
| 726 (ST-62) | MSH2 | 3 | c.592_593insG† | Frameshift | ND | ND |
| 278 | MSH2 | 5 | c.862C>T* | Q288X | MSI-H | MSH2 |
| 122 | MSH2 | 5 | c.942+3 A>T | Alteration of splicing | MSI-H | NT |
| 765 (ST-63) | MSH2 | 7 | c.1165C>T | R389X | ND | MSH2 |
| 535 | MSH2 | 7 | c.1189C>T | Q397X | MSI-H | MSH2 |
| 788 (ST-33) | MSH2 | 8 | c.1373T>G | L458X | ND | MSH2 |
| 631 (MTS-18) | MSH2 | 9, 10 | Deletion of exons 9, 10† | Large deletion | MSI-H | NT |
| 810 | MSH2 | 10 | c.1571G>C | R524P | MSI-H | None |
| MTS-2a | MSH2 | 10 | c.1576delA* | Frameshift | MSI-H | ND |
| 398 (MTS-24) | MSH2 | 10 | c.1578delC† | Frameshift | MSI-H | MSH2 |
| 132 | MSH2 | 11 | c.1676delA* | Frameshift | MSI-H | NT |
| 167 | MSH2 | 11 | c.1700_1704delAAACA* | Frameshift | MSI-H | MSH2 |
| 133 | MSH2 | 12 | c.1809delT* | Frameshift | MSI-H | MSH2 |
| 655 (ST-29) | MSH2 | 12 | c.2005+2T>C† | Alteration of splicing | ND | ND |
| 851 (MTS-8) | MSH2 | 13 | c.2015delT* | Frameshift | MSI-H | NT |
| 62 | MSH2 | 13 | c.2090 G>T* | C697F | MSI-H | MSH2 |
| 667 (ST-28) | MSH2 | 13 | c.2131C>T | R711X | MSI-H | MSH2 |
| 628 (ST-27) | MSH2 | 14 | c.2228C>G | S743X | MSI-H | MSH2 |
| 762 | MSH2 | 15, 16 | Deletion of exons 15, 16† | Large deletion | MSI-H | MSH2 |
| MTS-9 | MLH1 | 2 | c.150_151insT* | Frameshift | MSI-H | ND |
| MTS-14 | MLH1 | 16 | c.1884_1888delGGAAA* | Frameshift | MSI-H | ND |