Table 4.
Clinicopathologic and molecular features of MUTYH mutation carriers
| Case | Age | Sex | Tumor location |
Stage | Differentiation | Mucinous production |
MSI status |
MMR IHC | Other tumors |
Synchronous adenomas (no.) |
Family history* |
KRAS status |
MUTYH mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 52 | 46 | M | Rectum | III | Moderately | No | MSS | Normal | Colon (46) | Yes (5) | Colon (brother, 43) | wt | Y176C/1138delC |
| Larynx (father, 33) | |||||||||||||
| Breast (mother, 50) | |||||||||||||
| Thyroid (mother, 70) | |||||||||||||
| Breast (maternal aunt, 60) | |||||||||||||
| 95D | 43 | F | Rectum | III | Well | No | MSS | Normal | No | No | Breast (mother, 67) | ND | G393D/G393D |
| 137D | 47 | F | Sigmoid | II | Well | No | MSS | Normal | No | Yes (1) | ND | ND | G393D/G393D |
| 31D | 45 | M | Ascending | II | Well | No | MSS | ND | No | Yes (2) | Colonic polyposis (brother, ?) | G12C | G393D/T474fs488X |
| Colonic polyposis (sister, ?) | |||||||||||||
| Colon (uncle, 80) | |||||||||||||
| Colon (cousin, 48) | |||||||||||||
| 38D | 48 | F | Rectum | I | ND | No | MSS | Normal | No | No | No | G12C | Y176C/− |
| 154D | 40 | M | Ascending | IV | Well | No | MSI | Loss of MSH6 | No | No | Leukemia (father, 62) | ND | G393D/− |
| Prostate (grandfather, 70) | |||||||||||||
| 31 | 50 | M | Rectum | IV | Poorly | Yes | MSS | Normal | No | No | No | wt | G393D/− |
| 2 | 33 | F | Rectum | III | Moderately | No | MSS | Normal | No | No | Endometrium (sister, 42) | wt | G393D/− |
| Endometrium (grandmother, 42) |
Abbreviation: IHC, immunohistochemistry.
*
Affected relative and age at diagnosis are indicated between parentheses.