Skip to main content

Table 1 Comparison of APC mutation frequency in reference population of individuals with FAP, with APC mutation frequency in reported cases of thyroid cancer in individuals with FAP – including comparison of regional mutation frequency

From: Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals

Codon

Mutation frequency in RP

TC cases

TC frequency of mutation

Odds ratio (CI) by region

OR (CI)

p-value

140

0.05%

1

2.08%

2.6 (1.2-5.1) p = 0.0099

43.4 (0.5-3410.0)

0.0454

157

0.15%

1

2.08%

14.5 (0.3-183)

NS

159

0.05%

1

2.08%

43.4 (0.5-3410.0)

0.0454

175

0.05%

1

2.08%

43.4 (0.5-3410.0)

0.0454

180

0%

1

2.08%

∞ (2.2-∞)

0.0230

278

0.39%

2

4.17%

11.1(1.1-57.3)

0.0207

302

0.64%

1

2.08%

3.3 (0.1-23.0)

NS

312

0%

2

4.17%

∞ (12.4-∞)

0.0005

499

0.34%

1

2.08%

6.2 (0.1-49.6)

NS

512

0%

1

2.08%

 

∞ (2.2-∞)

0.0230

528

0.05%

2

4.17%

1.6 (0.7-3.4) p = 0.1906

88.7 (4.5-5237.0)

0.0015

564

0.69%

2

4.17%

6.3 (0.7-28.6)

NS

593

0.25%

1

2.08%

8.7 (0.2 - 79.4)

NS

698

0.05%

3

6.25%

136.1 (10.5-7145.1)

0.00004

778

0.15%

1

2.08%

 

14.5 (0.3-183)

NS

938

0.10%

1

2.08%

0.4 (0.2-0.8) p = 0.0033

21.7 (0.4-420.8)

NS

976

0.05%

1

2.08%

43.4 (0.5-3410.0)

0.0454

993

0.10%

1

2.08%

21.7 (0.4-420.8)

NS

1061

5.34%

9

18.75%

4.1 (1.7-8.9)

0.0011

1068

0.83%

2

4.17%

5.2 (0.6-22.8)

NS

1105

0.10%

1

2.08%

21.7 (0.4-420.8)

NS

1110

0.25%

1

2.08%

8.7 (0.2 - 79.4)

NS

1275

0%

1

2.08%

∞ (2.2-∞)

0.0230

1309

12.89%

5

10.42%

0.8 (0.2-2.0)

NS

1464

0.59%

1

2.08%

3.6 (0.1-25.2)

NS

1948

0%

2

4.17%

∞ (12.4-∞)

0.0005

2092

0%

2

4.17%

 

∞ (12.4-∞)

0.0005

  

48

    
  1. RP = reference population (from UMD/APC database).
  2. TC = thyroid cancer.
  3. NS = not significant.
  4. CI = confidence interval.
  5. Bold= statistically significant odds ratio by region, or bold to highlight the most common APC mutations.