Skip to main content

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.
Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287