Characteristics of HNPCC families in which either an hMLH1 or an hMLH2 mutation had been found
| Variable | hMLH1 | HMSH2 | |||
|---|---|---|---|---|---|
| CRC, colorectal carcinoma; EC, endometrial carcinoma; HNPCC, hereditary non-polyposis colorectal cancer; MC, cancer at minor HNPCC sites. | |||||
| Number of pedigrees | 39 | 45 | |||
| Subjects in the largest pedigree | 108 | 70 | |||
| Generations in the deepest pedigree | 6 | 5 | |||
| Amsterdam criteria I (% of total) | 23 | (59%) | 32 | (71%) | |
| Amsterdam criteria II (% of total) | 29 | (74%) | 40 | (89%) | |
| Mean size of pedigrees (median) | 27.9 | (24) | 29 | (25) | |
| Number of subjects with phenotype information | 1088 | 1304 | |||
| Non-diseased subjects | |||||
| Number of subjects (% of total) | 846 | (77.8%) | 1028 | (78.8%) | |
| Genotyped (% of non-diseased) | 319 | (37.7%) | 363 | (35.3%) | |
| Mutation carriers (% of genotyped) | 156 | (48.9%) | 149 | (41.0%) | |
| Diseased subjects (CRC, EC, MC) | |||||
| Number of subjects (% of total) | 242 | (22.2%) | 276 | (21.2%) | |
| CRC (% of diseased) | 202 | (83.5%) | 207 | (75.0%) | |
| EC (% of diseased) | 27 | (11.2%) | 36 | (13.0%) | |
| MC (% of diseased) | 13 | (5.4%) | 33 | (12.0%) | |
| Genotyped (% of diseased) | 45 | (18.6%) | 51 | (18.5%) | |
| Mutation carriers (% of genotyped) | 44 | (97.8%) | 48 | (94.1%) | |
| CRC (% of mutation carriers) | 37 | (84.1%) | 32 | (66.7%) | |
| EC (% of mutation carriers) | 4 | (11.4%) | 11 | (22.9%) | |
| MC (% of mutation carriers) | 2 | (4.5%) | 5 | (10.4%) | |
| CRC before EC or MC | 9 | 17 | |||
| EC before CRC or MC | 13 | 14 | |||
| Mean age at first cancer | |||||
| CRC men | 43.4 | 45.5 | |||
| CRC women | 42.3 | 43.4 | |||
| EC | 45.7 | 43.3 | |||
| MC | 50.1 | 48.6 | |||