Table 1

Table 1 a-c: outcomes of DNA testing in polyposis patients

Table 1a. Prevalence gene variants in patients with 1-10 adenomas

 

APC

MUTYH biallelic

Polyposis gene other

Terlouw

 

0,3% 1/328

1.8% (6/328)

ND

Terlouw > 60 yrs

0/61

0/103

ND

Grover

44/1147 (4%)

19/1147

(1.7%)

ND

 

1b. Prevalence gene variants in patients with 10-20 adenomas

 

APC

MUTYH biallelic

Polyposis gene other

Hamar-tomateus

MMR

Other (TP53, CDH1)

Terlouw

 

3 /402

(0.7%)

6 /402

(1.5%)

ND

ND

ND

ND

Terlouw

>70

0/82

0/82

ND

ND

ND

ND

Stanich

14/1342 (1%)

15/1342 (1.1%)

2/1342 (0.2%)

13/1342 (1%)

41/1342

(3.3%)

includes chek2

 

1 (0.1%)

Stanich

70-80 yrs

 

 1/151

(0.7%)

0/151

0/151

 

7/151

(4.6%)

includes chek2

 

 

Stanich

>80 yrs

0/39

0/39

0/39

 

3/93 (7.7%), includes chek2

 

Grover

50/970 (5%)

37/970 (3.8%)

ND

ND

ND

ND

 

Table 1c. Prevalence gene variant in patients with 20-100 adenomas

 

APC

MUTYH biallelisch

Polyposis gene other

Hamar-tomatous

MMR

Other (TP53, CDH1)

Terlouw

 

65/712(9%)

82/712 (12%)

ND

ND

ND

ND

Terlouw >70 yrs

 

0/90

1/90 (1.1%)

ND

ND

ND

ND

Stanich

65/1637 (4%)

73/1673 (4.5%)

1/1673 (0.1%)

40/1673 (2.4%)

19/1637 (1.1%)

includes chek2

8/1637 (0.5%)

Stanich

>70 yrs

8/297 2.7% (APC and MUTYH combined)

See APC

See APC

2/297 0.7%

11/297

(3.7%)

includes chek2

Not specified

Stanich > 80

2/44 4.5% (APC and MUTYH combined)

See APC

See APC

0/44 0%

3/44

6.8% includes chek2

Not specified

Grover

 

326/3253 (10%)

 

233/3253 (7%)