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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)