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Table 6 Observed cancer cases for the MLH1 cohort with 100% or 50% probability of MMR mutation (excluding colorectal and endometrial cancer)

From: A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Primary site

Observed number

Proportion [%]

LL 95%

UL 95%

Proportion [%] in Sweden 1970

Proportion [%] in Sweden 2010

Reference outside CI

Breast

28

17.72

12.03

24.05

16.61

23.02

No

Stomach

26

16.46

10.76

22.15

6.31

1.4

above

Kidney/urinary tract excl prostate

16

10.13

5.7

15.19

8.99

5.77

No

Skin excl melanoma

12

7.59

3.8

12.03

1.76

4.5

No

Pancreas

11

6.96

3.16

11.39

2.66

1.6

above

Brain and nervous system

10

6.33

2.53

10.13

6.61

5.34

No

Ovary and Fallopian tube

8

5.06

1.9

8.86

4.97

2.02

No

Small bowel

7

4.43

1.27

7.59

0.57

0.57

above

Liver and biliary system

6

3.8

1.27

6.96

2.52

1.65

No

Malignant melanoma

6

3.8

1.27

6.96

4.98

10.18

No

Cervix

5

3.16

0.63

6.33

5.79

2.08

No

Prostate

5

3.16

0.63

6.33

4.26

11.02

No

Head and neck

4

2.53

0.63

5.06

3.69

2.95

No

Lung and airways

4

2.53

0.63

5.06

6.79

5.46

below

Oesophagus

3

1.9

0

4.43

0.74

0.58

No

Blood and lymphatic tissue

3

1.9

0

4.43

10.02

9.72

below

Bone and soft tissue

2

1.27

0

3.16

1.75

1.17

No

Testicle

1

0.63

0

1.9

1.98

3.65

below

Thyroid

1

0.63

0

1.9

1.68

2.22

No

Female genital organ

0

0

0

0

0.54

0.33

below

Penis

0

0

0

0

0.32

0.18

below

Eye

0

0

0

0

0.48

0.35

below

Endocrine cancer

0

0

0

0

2.66

2.12

below

Unspecified location

0

0

0

0

3.32

2.14

below

  1. The observed proportions adjusted for age and sex are compared to those of the general population in year 1970 and 2010 (ref National Board of Health and Welfare). If the observed confidence interval in the Lynch syndrome group did not overlap with the proportions in the general population, the reference is denoted as “above” the reference and is marked in bold
  2. LL Lower level of 95% confidence interval, UL upper level of 95% confidence interval