Table 5.

Age of diagnosis among carriers with point mutations versus large rearrangements

Type of mutation
P
Point mutationsLarge rearrangements
Mean youngest age of diagnosis (±SE), y
Carrier
    CRC43.048.30.001
    Endometrial cancer45.744.70.12
    Other HNPCC* cancer49.7 (±2.1)48.7 (±2.8)0.82
Relatives
FDR
    CRC42.8 (±0.9)45.9 (±2.3)0.14
    Endometrial cancer46.8 (±1.2)47.3 (±1.6)0.85
    Other HNPCC50.9 (±1.9)46.0 (±3.4)0.24
SDR
    CRC47.6 (±1.4)52.7 (±3.6)0.17
    Endometrial cancer48.7 (±2.1)46.0 (±5.3)0.64
    Other HNPCC48.5 (±2.8)57.2 (±8.7)0.23
FDR + SDR
    CRC42.8 (±0.9)44.1 (±2.1)0.54
    Endometrial cancer46.1 (±1.0)46.3 (±1.8)0.94
    Other HNPCC50.0 (±1.6)49.5 (±3.6)0.89
  • NOTE: Carriers of MLH1 and MSH2 gene mutations.

  • * 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).