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Table 1 Prevalence of CHEK2 mutation in patients with thyroid cancer versus healthy controls based on case-control series. (NA: no data available; OR: odds ratio; CI: confidence interval)

From: CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?

Author

Population

Tumor Type

Investigated Gene Variant

Carrier Frequency in thyroid cancer patients

Carrier Frequency in healthy controls

OR

95%-CI

p-value

Cybulski et al. (7)

Polish

Papillary thyroid

c.1100delC

1/173

(0,57%)

10/4000

(0,25%)

2,3

[NA]

0,9

   

c.444 + 1G > A

5/173

(2,89%)

19/4000

(0,48%)

6,2

[NA]

0,0003

   

c.470 T > C

15/173

(8,67%)

192/4000

(4,80%)

1,9

[NA]

0,04

Siołek et al. (8)

Polish

Papillary thyroid

c.1100delC

1/468

(0,21%)

0/468

(0,00%)

NA

[NA]

NA

   

c.444 + 1G > A

10/468

(2,14%)

1/468

(0,20%)

10

[1,3 – 78,1]

0,03

   

c.470 T > C

60/468

(12,82%)

25/468

(5,30%)

2,8

[0,6 – 14,8]

0,001

   

c.27417113-27422508del

6/468

(1,28%)

2/468

(0,40%)

3.0

[1,7-4, 6]

0,2

Fayaz et al. (15)

Iranian

Non anaplastic thyroid

c.444 + 1G > A

0/100

(0%)

0/ 100

(0,00%)

NA

[NA]

NA

  

c.470 T > C

0/100

(0%)

0/ 100

(0,00%)

NA

[NA]

NA

Wojcicka et al. (16)

Polish

Papillary thyroid

c.470 T > C

169/1700

(9,94%)

98/2056

(4,70%)

2,2

[1,71 – 2,86]

< 0,0001

Kaczmarek-Rys et al. (17)

Polish

Papillary and follicular thyroid

c.470 T > C

51/602

(4,49%)

42/829

(2,53%)

1,8

[1,20 – 2,72]

0,004

GÄ…sior-Perczak et al. (14)

Polish

Papillary thyroid

c.470 T > C

189/1547

(12,3%)

25/468

(5,30%)

2,5

[2,47 – 3,79]

< 0,001

c.1100delC

16/1547

(1,00%)

0/468

(0,00%)

NA

[NA]

NA

c.444 + 1G > A

18/1547

(1,20%)

1/468

(0,20%)

7,1

[0,95 – 52,31]

0,056

c.27417113-27422508del

10/1547

(0,60%)

2/468

(0,40%)

2,1

[0,48 -9,40]

0,319

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287