Table 1

Characteristics of the participants

Population controlsFamily-based casesFamily-based cases: subset*
n347439181968
Families34921602
Relatives per family included
 1347430991263
 20364309
 302525
 4043
Study
 ABCS156390482
 HEBON022481671
 ORIGO98700
 RBCS924766215
Array
 GSA17811781
 iCOGS23881680163
 OncoArray108645724
Age
 Mean45.645.146.8
 Range18–9321–9121–91
First breast cancer
 InvasiveNA35751630
 In situNA312308
 UnknownNA3130
ER status
 PositiveNA1755927
 NegativeNA488213
 UnknownNA1675828
 Second breast tumour (n)NA719327
Age
 MeanNA52.652.9
 RangeNA26–8026–79
 UnknownNA13029
Invasiveness
 InvasiveNA460220
 In situNA11677
 UnknownNA14430
ER status
 PositiveNA290153
 NegativeNA4921
 UnknownNA380153
Gene panel results
 All258425861586
 No PV253723691463
CHEK2 PV3116798
ATM PV93918
CHEK2+ATM PV021
PALB2 PV†7106
Standardised PRS313 (SD)
 Overall BC0 (1.03)0.71 (0.96)0.64 (0.88)
 ER+ BC0 (1.03)0.72 (0.97)0.65 (0.88)
 ER− BC0 (1.01)0.45 (0.94)0.29 (0.85)
BOADICEAFH
 Mean (SD)0 (0.99)0.55 (0.39)0.69 (0.35)
Affected FDR
 0NA1125
 1NA1454
 2NA555
 >2NA176
Affected SDR
 0NA1360
 1NA1086
 2NA583
 >2NA281
 UnknownNA615
  • *Cases included in the association analyses which were not part of the development data set for the PRS313 as described in Mavaddat et al.5

  • †Excluding variants in the last exon of PALB2 to make it uniform for all 2586 cases.

  • ABCS, Amsterdam Breast Cancer Study; BC, breast cancer; BOADICEAFH, polygenic load calculated in the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm; ER, Estrogen Receptor; FDR, first-degree relatives; GSA, Global Screening Array; HEBON, Hereditary Breast and Ovarian cancer study in the Netherlands; n, number of individuals; NA, Not Applicable; ORIGO, Oorsprong van borstkanker integraal onderzocht; PRS, Polygenic Risk Score; PV, pathogenic variant; RBCS, Rotterdam Breast Cancer Study; SDR, second-degree relatives.