Clinical features of registered HNPCC patients and families subdivided into four main groups (families positive for constitutional mutations (and MSI+), families with MSI+ tumours but no detectable germline mutations, families with stable tumours, and families which could not be tested)
| Mut+ MSI+‡ | Mut− MSI+ | Mut− MSI− | Not tested | |
|---|---|---|---|---|
| *Including only extracolonic HNPCC related tumours (that is, endometrium, small bowel, renal pelvis and ureters, ovary, stomach). | ||||
| †Considering colorectal cancer only (values are mean (SD)). | ||||
| ‡Mut+, individuals (and families) with constitutional mutations of hMSH2, hMLH1, or hMSH6 gene; MSI+, individuals (and families) with microsatellite instability in resected neoplasms. | ||||
| HNPCC, hereditary non-polyposis colorectal cancer; MSI, microsatellite instability; CRC, colorectal carcinoma. | ||||
| No of families | 6 | 9 | 15 | 4 |
| No of subjects | 190 | 171 | 510 | 77 |
| Family size (mean (SD)) | 31 (10) | 19 (4) | 34 (6) | 19 (4) |
| Members affected | 69 | 45 | 138 | 19 |
| Total tumours | 85 | 58 | 158 | 20 |
| Colorectal tumours | 43 | 41 | 95 | 13 |
| Extracolonic tumours* | 21 | 11 | 10 | 1 |
| Age at diagnosis (y)† | 51 (9) | 51 (11) | 63 (11) | 63 (5) |
| Colorectal cancer site | ||||
| Right colon | 19 | 19 | 23 | 3 |
| Left colon+rectum | 12 | 15 | 44 | 8 |
| Not assessable | 12 | 7 | 28 | 2 |
| 5 y CRC survival (%) | 63 | 56 | 31 | 46 |