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Table 3 Number of patients with benign neoplasms and different cancer types, and the age range

From: Germline PTEN mutations are rare and highly penetrant

 

PTEN mutation positive families fulfilling the Cowden syndrome criteria (6 families, only demonstrated mutation carriers included)

Assumed Cowden syndrome families but not fulfilling the criteria, no PTEN mutation detected (2 families)

Breast- and thyroid-cancer kindreds, no PTEN mutation detected (8 families)

 

Number of patients

Median/Mean age (range) years

Number of patients

Median/Mean age (range) years

Number of patients

Median/Mean age (range) years

Benign neoplasms

Goitre and/or adenoma

12

29/27.25 (14-38)

  

1**

34

Polyps of GI tract

10

38/36.5 (22-49)

    

Haemangioma

8

26.5/28.1 (0.75-54)

    

Mucocutaneous lesions

9

36/36.6 (22-52)

1

59

  

Endometrial polyps/simple hyperplasia

7

43/42.4 (29-52)

    

Benign tumours of the breast

7

33/33.4 (21-50)

  

1**

25

Lipoma

3

36/27.3 (10-36)

    

Cancers

Breast

5*

35/35.4 (24-45)

4

42.5/46.5 (25-76)

12

50.5/52 (40-65)

Thyroid

3

13/23 (11-45)

5

50/49.2 (24-84)

11

45/46.4 (22-83)

Brain

3†

42/39 (24-51)

    

Endometrial

2

39/39 (31-47)

  

1

67

Kidney

1

52

1

27

  

Testicular

  

1

62

  

Mediastinal

  

1

54

  

Ovarian

    

2

51.5/51.5 (49-54)

Colon

    

2

57/57 (49-65)

Prostate

    

1

58

Histiocytoma

    

1

45

Malignant melanoma

    

2

57.5/57.7 (56-59)

Cervical

    

1

34

Adrenal

    

1

56

  1. * two patients had bilateral disease, scored for age at first cancer; † two patients had a gangliocytoma (Lhermitte-Duclos disease), one had a tumour of the pineal gland; ** same patient.