Table 2. Molecular features of tumors from patients affected by multiple LS-associated tumors.
| IHC | % somatic MLH1 methylation | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Case | Tumor type | Age of onset | MSI analysis | MLH1 | MSH2 | MSH6 | PMS2 | BRAF | C region (−246) | D region (−13) |
| 1 | CRCa | 32 | + | − | + | + | − | wt | 57.6 | 59.7 |
| CRC | 34 | + | − | + | + | − | wt | 60.5 | 62.8 | |
| 7 | CRCa | 42 | + | − | + | + | ND | wt | 24.1 | 25.2 |
| CRC | 42 | + | − | + | + | − | wt | 28.9 | 24.2 | |
| 21 | CRCa | 58 | + | − | + | + | ND | V600E | 40.6 | 66.6 |
| CRC | 58 | − | + | + | + | + | ND | ND | ND | |
| CRC | 58 | − | + | + | + | + | ND | ND | ND | |
| CRC | 58 | − | ND | ND | ND | ND | ND | ND | ND | |
| 24 | CRC | 29 | NA | NA | NA | NA | NA | NA | NA | NA |
| CRCa | 59 | + | − | + | + | ND | V600E | 11.4 | 20.6 | |
| 25 | CRCa | 69 | + | − | + | + | ND | wt | 50.3 | 43.1 |
| CRC | 69 | NA | NA | NA | NA | NA | NA | NA | NA | |
| 26 | CRC | 64 | NA | NA | NA | NA | NA | NA | NA | NA |
| CRCa | 75 | + | − | + | + | − | V600E | 27.1 | 30.1 | |
| 29 | CRCa | 23 | + | − | + | + | ND | ND | 79.8 | 50.4 |
| GC | 26 | + | − | + | + | ND | ND | 63.0 | 73.0 | |
| 34 | CRC | 29 | NA | NA | NA | NA | NA | NA | NA | NA |
| CRCa | 47 | ND | − | ND | ND | − | wt | 55.5 | 48.8 | |
| EC | 49 | + | − | + | + | ND | wt | 26.1 | 37.3 | |
Abbreviations: NA, not available; ND, not done.
a
Tumors included in the initial series listed in Table 1.