Table 4.

Clinical characteristics of carriers by type of mutation: point mutations versus large rearrangements

Type of mutation
POR (95% CI)*
Point mutations (n = 243)
Large rearrangements (n = 42)
Frequency (column %)Frequency (column %)
Gender0.241.5 (0.8-2.9)
    Male97 (40)21 (50)
    Female146 (60)21 (50)
Modified Amsterdam148 (61)31 (76)0.082.0 (0.9-4.2)
Personal cancer history
    CRC
        Yes173 (71)34 (81)0.261.7 (0.8-3.9)
        No70 (29)8 (19)
        None71 (29)8 (19)0.14
        One139 (57)31 (74)
        Two or more33 (14)3 (7)
    CRC diagnosed at age <50 y135 (78)17 (50)0.0010.3 (0.1-0.6)
    Endometrial cancer (among females only)58/146 (40)10/21 (48)0.491.4 (0.6-3.5)
    Other HNPCC40 (16)11 (26)0.131.8 (0.8-3.9)
    Multiple HNPCC70 (29)14 (33)0.581.2 (0.6-2.5)
Family cancer history
    Mean number of tumors:
    FDR
        CRC1.231.330.47
        Endometrial cancer0.280.260.86
        Other HNPCC0.260.450.11
    SDR
        CRC0.790.810.92
        Endometrial cancer0.150.240.47
        Other HNPCC0.130.210.20
    FDR + SDR
        CRC1.631.740.45
        Endometrial cancer0.350.380.79
        Other HNPCC0.330.560.07
  • NOTE: Carriers of MLH1 and MSH2 gene mutations.

  • * 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).