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Table 1 Characteristics of the CHEK2 c.1100del index PV carriers (N = 66)

From: Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Breast cancer

N

Mean age diagnosis

Min

max

Breast cancer

64

44.8

21

64

2nd breast cancer

18

52.1

35

67

Other cancer

7

54.2

39

66

 Ovarian cancer (borderline)

3 (2)

50.3

39

65

 Skin (1 melanoma; 3 undefined)

4

58

53

66

Receptor status

Pos (%)

Neg. (%)

Some amplifaction (%)

 Oesterogen (N = 48)

44 (91.7%)

4 (8.3%)

 

 Progesteron (N = 47)

37 (78.7%)

10 (21.3%)

 

 HER2neu amplification (N = 35)

9 (25.7%)

24 (68.6%)

2 (5.7%)

 

Ductal

Lobular

Ductal with lobular features

Histopathology known (N = 53)

45 (84.9%)

5 (9.4%)

3 (5.7%)

Family history

Yes (%)

No (%)

Unknown (%)

Breast cancer

51 (77.3%)

14 (21.2%)

1 (1.5%)

 1st-degree only

23

 2nd-degree only

14

 Both 1st- and 2nd-degree

13

Families with other cancers in 1st degree relatives

32 (48.5%)

33 (50.0%)

1 (1.5%)

N Cancers in 1st-degree relativesa

40 (60.6%)

  
  1. aColorectal (N = 8), prostate (N= 5), ovary (N = 4), endometrium (N = 3), kidney (N = 3), skin (N = 4, incl. two melanomas), Leukemia (N = 2), cervix (N = 2), other cancers (N = 8)