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Table 1 APC mutation detection rate according to colorectal phenotype and family history

From: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

  Colorectal phenotype
  all severe typical atypical attenuated unknown
Patients 1166 33 504 85 407 137
   point mutation 597 25 384 38 93 57
   large deletion 37   30 2 4 1
   all mutations 634 25 414 40 97 58
Mutation detection rate 54% 76% 82% 47% 24% 42%
Familial cases (dominant) 558 13 326 38 131 50
Mutation detection rate 73% 85% 85% 71% 49% 56%
Familial cases (recessive) 27 1 2 6 17 1
Mutation detection rate 0%      
De novo mutations 63 10 46 - 6 1*
Mutation detection rate 100%      
Single cases 255 7 65 26 127 30
Mutation detection rate 30% 43% 60% 27% 14% 30%
Unknown 263 2 66 15 125 55
Mutation detection rate 34% 50% 80% 40% 7% 36%
  1. * The diagnosis of FAP was suspected because of osteomas in a child with normal colonic phenotype at the age of 11. In this patient a de novo frameshift mutation in codon 1551 was proven.