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Table 2

Expected versus observed mutation frequencies in microsatellite unstable tumorsa

Locus or geneSMTObs. hom. wt. freq.Obs. het. mut. freq.Obs. biallelic mut. freq.Exp. het. mut. freq.bExp. biallelic mut. freq.bBinomal sumc
Examples  10%   46% 44%  
  25%   50% 25%  
  50%   42% 8%  
  75%   22% 2%  
  90%   10% 0.2%  
Published data        
 SMT 14 (G)8 54% 38% 8% 39% 7% >0.1 
 SMT 4 (A)8 71% 25% 4% 27% 3% >0.1 
 SMT 28 (G)8 71% 25% 4% 27% 3% >0.1 
 SMT 10 (A)8 75% 25% 0% 23% 2% >0.1 
 SMT 1 (G)8 75% 25% 0% 23% 2% >0.1 
 SMT 25 (G)8 79% 17% 4% 20% 1% >0.1 
 SMT 19 (A)8 79% 21% 0% 20% 1% >0.1 
 SMT 18 (G)8 88% 13% 0% 12% 0.4% >0.1 
 SMT 26 (A)8 88% 13% 0% 12% 0.4% >0.1 
 SMT 2 (A)8 92% 8% 0% 8% 0.2% >0.1 
 SMT 3, 7, 17, 21, 22, 27 (A)8 96% 4% 0% 4% 0.04% N/A 
 SMT 24 (A)8 96% 0% 4% 4% 0.04% N/A 
 SMT 5, 8, 9, 11, 12, 13, 20, 23 (A)8 100% 0% 0% 0% 0% N/A 
 BAX        
  SMT mutations (G)8 43% 29% 29% 45% 12% 0.009 
Current study        
 TGFBR2        
  All mutations  0%d 7%e 93%e 29% 68% 0.004 
  SMT mutations (A)10 0%d 21% 79% 29% 68% 0.24 
 ACVR2        
  All mutations  7% 4% 89% 39% 54% 0.00001 
  SMT mutations (A)8 x 2 7% 7% 86% 39% 54% 0.0001 
Locus or geneSMTObs. hom. wt. freq.Obs. het. mut. freq.Obs. biallelic mut. freq.Exp. het. mut. freq.bExp. biallelic mut. freq.bBinomal sumc
Examples  10%   46% 44%  
  25%   50% 25%  
  50%   42% 8%  
  75%   22% 2%  
  90%   10% 0.2%  
Published data        
 SMT 14 (G)8 54% 38% 8% 39% 7% >0.1 
 SMT 4 (A)8 71% 25% 4% 27% 3% >0.1 
 SMT 28 (G)8 71% 25% 4% 27% 3% >0.1 
 SMT 10 (A)8 75% 25% 0% 23% 2% >0.1 
 SMT 1 (G)8 75% 25% 0% 23% 2% >0.1 
 SMT 25 (G)8 79% 17% 4% 20% 1% >0.1 
 SMT 19 (A)8 79% 21% 0% 20% 1% >0.1 
 SMT 18 (G)8 88% 13% 0% 12% 0.4% >0.1 
 SMT 26 (A)8 88% 13% 0% 12% 0.4% >0.1 
 SMT 2 (A)8 92% 8% 0% 8% 0.2% >0.1 
 SMT 3, 7, 17, 21, 22, 27 (A)8 96% 4% 0% 4% 0.04% N/A 
 SMT 24 (A)8 96% 0% 4% 4% 0.04% N/A 
 SMT 5, 8, 9, 11, 12, 13, 20, 23 (A)8 100% 0% 0% 0% 0% N/A 
 BAX        
  SMT mutations (G)8 43% 29% 29% 45% 12% 0.009 
Current study        
 TGFBR2        
  All mutations  0%d 7%e 93%e 29% 68% 0.004 
  SMT mutations (A)10 0%d 21% 79% 29% 68% 0.24 
 ACVR2        
  All mutations  7% 4% 89% 39% 54% 0.00001 
  SMT mutations (A)8 x 2 7% 7% 86% 39% 54% 0.0001 
a

Obs., observed; hom., homozygous; wt., wild type; freq., frequency; mut., mutation; het., heterozygous; SMT, short mononucleotide tracts.

b

Expected values are derived from the mathematical model on the assumption of the given hypothetical or observed wild-type frequencies.

c

The binomial sum is not reported for expected biallelic mutation frequencies of 0.

d

3% was imputed for calculation of expected frequencies, as described in the text. The binomial sum will be lower with higher imputed values and vice versa.

e

Assumption of biallelic mutations in Co53 and KM12.

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