Table 1.

Clinical characteristics of mutation carriers: MLH1 versus MSH2

Gene mutation
POR (95% CI)*
MLH1 (n = 112)
MSH2 (n = 173)
Frequency (%)Frequency (%)
Gender0.390.8 (0.5-1.3)
    Male50 (45)68 (39)
    Female62 (55)105 (61)
Modified Amsterdam62 (55)117 (68)0.031.7 (1.04-2.8)
Personal cancer history
    CRC
        Yes88 (79)119 (69)0.080.6 (0.3-1.0)
        No24 (21)54 (31)
        None25 (21)54 (31)0.25
        One72 (64)99 (57)
        Two or more16 (14)20 (12)
    CRC diagnosed at age <50 y72 (83)80 (67)0.010.4 (0.2-0.8)
    Endometrial cancer (among females only)22/62 (36)46/105 (44)0.331.4 (0.7-2.7)
    Other HNPCC10 (9)41 (24)0.0013.2 (1.5-6.6)
    Multiple HNPCC33 (29)51 (29)1.001.0 (0.6-1.7)
Family cancer history
    Mean number of tumors
    FDR
        CRC1.331.190.30
        Endometrial cancer0.240.300.43
        Other HNPCC0.140.39<0.001
    SDR
        CRC0.990.670.01
        Endometrial cancer0.230.130.12
        Other HNPCC0.130.160.53
    FDR + SDR
        CRC1.821.530.04
        Endometrial cancer0.360.360.99
        Other HNPCC0.200.46<0.001
  • Abbreviation: CRC, colorectal cancer.

  • * Reference group: MLH1 carriers (OR, 1.0).

  • HNPCC includes cancers in the colorectum, kidney, ureter, bladder, brain, biliary tract, stomach, small intestine, ovary, pancreas, and sebaceous neoplasms.

  • A weighted sum of cancer diagnoses among FDR + SDR is used to incorporate the effect of genetic distance. Cancer diagnoses in SDR were weighted half that in FDR (12).