Table 2.
Somatic changes found in CRCs analyzed for the entire coding region of MYH11
| Type of sample | Sample ID | MSI status | Sequence variant | Exon | Germline* |
|---|---|---|---|---|---|
| Patient sample | S1160T | MSS | R501L, K1044N | 12, 24 | WT |
| C451T | MSI | c.3766_3768delAAG, c.5798delC | 27, 40 (SM2) | WT | |
| C621T | MSI | c.5798delC, IVS13 + 3A > G | 40 (SM2) | WT | |
| C840T | MSI | c.5798delC, R1339C | 40 (SM2), 29 | WT | |
| C426T | MSI | c.5798delC, c.3766_3768delAAG, R501C | 40 (SM2), 27, 12 | WT | |
| C698T | MSI | c.5798delC, R1862H | 40 (SM2), 38 | WT | |
| C204T | MSI | c.5797_5798delCC | 40 (SM2) | WT | |
| C340T | MSI | c.5798_5799insC | 40 (SM2) | WT | |
| C1023 | MSI | c.5798delC, c.5798delC | 40 (SM2) | WT | |
| C484T | MSI | c.5798delC, T672T | 40 (SM2), 15 | WT | |
| C440T | MSI | c.5798delC, D1100D | 40 (SM2), 25 | WT | |
| † | MSI | c.5798delC | 40 (SM2) | WT | |
| Cell line | GP5D | MSI | c.5798delC, c.1094_1097delGAAA, p.R1732H | 40 (SM2), 9, 36 | ND |
| LS174T | MSI | c.5798delC, G258E | 40 (SM2), 6 | ND | |
| HCT15 | MSI | A1766V | 37 | ND | |
| HCT116 | MSI | A1817V | 37 | ND | |
| SNUC2B | MSI | R1895C | 39 | ND | |
| LoVo, CCL231, RKO, VACO5 | MSI | c.5798delC | 40 (SM2) | ND |
ND, not determined because no normal tissue was available.
*When a nucleotide change in tumor tissue was observed, the respective normal tissue DNA was sequenced.
†Twenty-two samples total.