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Table 1 Key characteristics of the study sample. BC: breast cancer; ER: estrogen receptor; OC: ovarian cancer; PV: pathogenic variant; (not) sICGT: (not) selected by the inclusion criteria for germline testing of the German Consortium for Hereditary Breast and Ovarian Cancer. *Diagnosis after age 60

From: Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

 

total

ED

LD

study sample

295

162

133

with BC

203

162

41*

sICGT

188

114

74

≥1 relative with BC/OC

170

99

71

not sICGT

107

48

59

BRCA1 PV carriers

183

116

67

PV within BCCR

 

33

19

PV within OCCR

 

21

19

BRCA2 PV carriers

112

46

66

PV within BCCR

 

12

7

PV within OCCR

 

16

14

ER status known, first BC

136

105

31

ER+

62

44

18

ER-

74

61

13

ER status unknown

67

57

10