Table 1

 Characteristics of HNPCC families in which either an hMLH1 or an hMLH2 mutation had been found

CRC, colorectal carcinoma; EC, endometrial carcinoma; HNPCC, hereditary non-polyposis colorectal cancer; MC, cancer at minor HNPCC sites.
Number of pedigrees3945
Subjects in the largest pedigree10870
Generations in the deepest pedigree65
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 information10881304
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 MC917
EC before CRC or MC1314
Mean age at first cancer
    CRC men43.445.5
    CRC women42.343.4