Table 6.

Multivariable analysis for factors predicting gene mutation status and mutation type

CharacteristicsOdds ratio (95% CI)
MLH1* vs MSH2Point mutations* versus large rearrangements
CRC age of diagnosis less than 50 y0.6 (0.3-1.3)0.7 (0.3-1.5)
Endometrial cancer in carriers1.7 (0.8-3.4)0.8 (0.4-1.9)
Extracolonic cancers in carriers3.2 (1.4-7.4)1.3 (0.6-2.9)
Increased number of CRC tumors in FDR+SDR0.8 (0.6-0.9)1.1 (0.9-1.6)
Increased number of extracolonic tumors in FDR+SDR2.1 (1.2-3.6)1.4 (0.9-2.2)
  • * Reference group.

  • Extracolonic cancers include 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).