Microsatellite instability (MSI) status and hMSH2 and hMLH1 germline mutations in sporadic early onset colorectal cancer patients
| Patient | Age | Colon cancer site |
Synchronous metachronous cancer | MSI | PTT | SSCP |
MMR gene alteration/ effect on coding sequence | |||||||
| SI521 | 48 | R | + | − | − | − | − | |||||||
| CA98 | 49 | R | − | − | − | − | − | |||||||
| SI520 | 43 | Sigmoid | − | − | − | − | − | |||||||
| SI530 | 41 | Rectum | + | − | − | − | − | |||||||
| CA185 | 40 | R | − | + | − | − | − | |||||||
| SI532 | 47 | Caecum | Lung | + | − | + | hMLH1 L260R1-150 | |||||||
| Missense | ||||||||||||||
| SI619 | 44 | R | − | − | − | − | − | |||||||
| SI525 | 40 | Rectum | − | − | − | − | − | |||||||
| SI524 | 44 | R | − | + | − | + | hMSH2 G321D | |||||||
| Missense | ||||||||||||||
| BA779 | 46 | R | − | + | − | − | − | |||||||
| TO516 | 47 | R | − | − | − | − | − | |||||||
| SI602 | 45 | R | − | − | − | − | − | |||||||
| CA133 | 48 | Sigmoid | − | − | − | − | − | |||||||
| SI510 | 47 | Sigmoid | − | + | − | − | − | |||||||
| SI601 | 35 | Rectum | − | − | − | − | − | |||||||
| GE602 | 37 | R | − | + | − | + | hMLH1 L260R1-150 | |||||||
| Missense | ||||||||||||||
| CA474 | 35 | R | − | − | − | − | − | |||||||
| GE604 | 32 | Rectum | − | − | − | − | − | |||||||
| SI518 | 36 | Transverse | − | NT | − | − | − | |||||||
| CA136 | 35 | R | − | + | − | − | − | |||||||
| GE501 | 26 | R | Ileum | − | − | − | − | |||||||
| SI513 | 26 | Rectum | − | − | − | − | − | |||||||
| CA22 | 27 | R | − | + | − | − | − | |||||||
| CA117 | 33 | Transverse | − | + | − | − | − | |||||||
R, right; L, left; NT, not tested.
↵1-150 Mutations not previously reported. Mutations are reported according to Beaudet and Tsui.15