Table 1.
Genetic alterations identified in the MYH gene and disease characteristics of the patients
| Patient Number | HNPCC MMR Mutation | First Alteration | Second Alteration | Sex | Age of Diagnosis of Adenomas | Number of Adenomas | CRC (Age of Diagnosis) | Other Cancers |
|---|---|---|---|---|---|---|---|---|
| 1 | NO | Y165C | NO | F | 43 | 1 | N-AF | |
| 2 | NO | G382D | V22M | F | >30 | ? | AF (36) | |
| 3 | hMSH2 (P)* | G382D | NO | M | 46 | 3 | AF (46) | Melanoma (42) |
| 4 | NO | G382D | NO | M | >70 | ? | N-AF | Gastric (78) |
| 5 | hMSH2 | G382D | NO | M | >30 | ? | N-AF | |
| 6 | NO | G382D | V22M | F | >40 | ? | AF (47) | |
| 7 | NO | G382D | NO | F | 45 | 1 | N-AF | |
* hMSH2 polymorphism with an unknown functional consequence